ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)

gnomAD frequency: 0.00114  dbSNP: rs146325169
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175807 SCV000227366 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283518 SCV000351650 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000175807 SCV001034307 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731418 SCV001984339 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000175807 SCV004169667 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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