ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.851-4G>A

dbSNP: rs372747855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952477 SCV001098983 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001091005 SCV001818295 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409269 SCV002675444 likely benign Cardiovascular phenotype 2022-03-25 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486951 SCV004240686 uncertain significance Cardiomyopathy 2023-06-07 criteria provided, single submitter clinical testing

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