ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.*102C>T

gnomAD frequency: 0.27226  dbSNP: rs2566
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001513265 SCV005284896 benign not provided criteria provided, single submitter not provided
GeneDx RCV001513265 SCV001881021 benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20163849, 23320911)
Genome-Nilou Lab RCV001537768 SCV001754725 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537767 SCV001754724 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537743 SCV001754691 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513265 SCV001720858 benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266238 SCV000353576 benign Junctional epidermolysis bullosa 2018-01-12 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.

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