Submissions for variant NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)

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Minimum conflict level: Report conflict between different conditions

Total submissions: 10

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Breakthrough Genomics, Breakthrough Genomics	RCV000676627	SCV005251733	benign	not provided		criteria provided, single submitter	not provided
Genome-Nilou Lab	RCV001807080	SCV002055894	benign	Progressive demyelinating neuropathy with bilateral striatal necrosis	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000282825	SCV002055893	benign	Amish lethal microcephaly	2021-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000676627	SCV001890849	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676627	SCV001729193	benign	not provided	2026-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000676627	SCV000843901	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282825	SCV000406421	benign	Amish lethal microcephaly	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118371	SCV001966176	benign	not specified		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676627	SCV000802419	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118371	SCV000152771	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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