ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.2064C>A (p.Ala688=)

gnomAD frequency: 0.00046  dbSNP: rs150861125
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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 RCV002993604 SCV003291675 likely benign not provided 2022-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963535 SCV004784529 likely benign LAMA5-related disorder 2019-04-12 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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