ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.837C>T (p.Asp279=)

gnomAD frequency: 0.00001  dbSNP: rs782335744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769201 SCV000900577 uncertain significance Cardiomyopathy 2016-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422651 SCV002680432 likely benign Cardiovascular phenotype 2020-12-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003741217 SCV004517065 likely benign Dilated cardiomyopathy 1JJ 2024-01-02 criteria provided, single submitter clinical testing

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