Submissions for variant NM_005787.6(ALG3):c.319A>G (p.Ile107Val)

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Total submissions: 33

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Breakthrough Genomics, Breakthrough Genomics	RCV003430875	SCV005262997	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV003430875	SCV004149504	benign	not provided	2026-02-01	criteria provided, single submitter	clinical testing	ALG3: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000303723	SCV001727870	benign	ALG3-congenital disorder of glycosylation	2026-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000428385	SCV000862835	likely benign	not specified	2018-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000428385	SCV000520254	benign	not specified	2016-03-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000303723	SCV000442348	likely benign	ALG3-congenital disorder of glycosylation	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Dr. Peter K. Rogan Lab, Western University	RCV005897639	SCV007092792	not provided	Malignant tumor of esophagus		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897639	SCV007092791	not provided	Malignant tumor of esophagus		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897643	SCV007092789	not provided	Uveal melanoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897640	SCV007092788	not provided	Adrenocortical carcinoma, hereditary		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897649	SCV007092787	not provided	Cholangiocarcinoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897649	SCV007092786	not provided	Cholangiocarcinoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897646	SCV007092785	not provided	Thymoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897646	SCV007092784	not provided	Thymoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897646	SCV007092783	not provided	Thymoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897638	SCV007092782	not provided	Hepatocellular carcinoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897645	SCV007092781	not provided	Sarcoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897645	SCV007092780	not provided	Sarcoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897641	SCV007092778	not provided	Cervical cancer		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897641	SCV007092777	not provided	Cervical cancer		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897647	SCV007092776	not provided	Thyroid cancer, nonmedullary, 1		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897644	SCV007092775	not provided	Colorectal cancer		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897636	SCV007092774	not provided	Colon adenocarcinoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897637	SCV007092773	not provided	Acute myeloid leukemia		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897648	SCV007092772	not provided	Melanoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897648	SCV007092771	not provided	Melanoma		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897650	SCV007092770	not provided	Lung cancer		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897650	SCV007092769	not provided	Lung cancer		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897642	SCV007092766	not provided	Clear cell carcinoma of kidney		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897642	SCV007092765	not provided	Clear cell carcinoma of kidney		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897642	SCV007092764	not provided	Clear cell carcinoma of kidney		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897642	SCV007092763	not provided	Clear cell carcinoma of kidney		no classification provided	in vitro
Dr. Peter K. Rogan Lab, Western University	RCV005897642	SCV007092762	not provided	Clear cell carcinoma of kidney		no classification provided	in vitro

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