ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1275G>A (p.Lys425=)

dbSNP: rs782618132
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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 RCV001492388 SCV001696998 likely benign Dilated cardiomyopathy 1JJ 2019-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641661 SCV005134479 likely benign Cardiovascular phenotype 2024-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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