ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4812G>A (p.Pro1604=)

dbSNP: rs553400393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058699 SCV001223288 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339292 SCV002635016 likely benign Cardiovascular phenotype 2019-05-08 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.
Clinical Genetics, Academic Medical Center RCV001700969 SCV001918804 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724219 SCV001955665 likely benign not provided no assertion criteria provided clinical testing

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