ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1200C>T (p.Asn400=)

dbSNP: rs375622742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250162 SCV000319987 likely benign Cardiovascular phenotype 2015-09-04 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 RCV002059037 SCV002454008 likely benign Dilated cardiomyopathy 1JJ 2023-05-09 criteria provided, single submitter clinical testing

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