ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)

gnomAD frequency: 0.00001  dbSNP: rs748104907
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001434031 SCV001636831 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001544639 SCV001763810 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420980 SCV002681729 likely benign Cardiovascular phenotype 2021-03-13 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.
Clinical Genetics, Academic Medical Center RCV001796494 SCV002034695 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001544639 SCV002035428 likely benign not provided no assertion criteria provided clinical testing

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