ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)

gnomAD frequency: 0.00016  dbSNP: rs370539335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707251 SCV000836341 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001731901 SCV001983353 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424724 SCV002729179 likely benign Cardiovascular phenotype 2024-02-22 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.
Revvity Omics, Revvity RCV001731901 SCV003833168 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001731901 SCV004224105 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing BS2

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