ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2124C>T (p.Asp708=)

gnomAD frequency: 0.00003  dbSNP: rs187481700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000649212 SCV000723714 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Invitae RCV001088446 SCV000771037 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000649212 SCV001155259 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420631 SCV002729940 likely benign Cardiovascular phenotype 2020-03-05 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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