ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=)

gnomAD frequency: 0.00002  dbSNP: rs569440839
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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) RCV000303352 SCV000336189 benign not specified 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001705417 SCV000524180 likely benign not provided 2020-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001705417 SCV002326334 benign not provided 2024-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000303352 SCV004812961 likely benign not specified 2024-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939983 SCV004750400 likely benign LAMC3-related disorder 2019-06-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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