ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg)

gnomAD frequency: 0.00016  dbSNP: rs200215903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497557 SCV000590021 benign not provided 2020-12-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30411535)
Labcorp Genetics (formerly Invitae), Labcorp RCV001088702 SCV001020906 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455958 SCV002739100 benign Cardiovascular phenotype 2021-07-19 criteria provided, single submitter clinical testing This alteration is classified as 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.
Revvity Omics, Revvity RCV000497557 SCV003833602 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing

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