ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.824A>G (p.Lys275Arg)

gnomAD frequency: 0.00003  dbSNP: rs183711657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651457 SCV000773309 likely benign Dilated cardiomyopathy 1JJ 2023-12-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853006 SCV000995761 likely benign Primary dilated cardiomyopathy; Long QT syndrome 2018-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001557901 SCV001779748 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406461 SCV002675547 likely benign Cardiovascular phenotype 2018-05-15 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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