ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.7626C>T (p.Ala2542=)

gnomAD frequency: 0.00002  dbSNP: rs773565605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002220195 SCV002366255 likely benign not provided 2021-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747029 SCV005345265 likely benign LAMA5-related disorder 2024-05-01 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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