ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)

gnomAD frequency: 0.00002  dbSNP: rs373087529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289047 SCV000344942 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000696363 SCV000824921 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000289047 SCV001793259 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418136 SCV002677058 likely benign Cardiovascular phenotype 2020-08-20 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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