ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5745C>T (p.Thr1915=)

gnomAD frequency: 0.00001  dbSNP: rs369449907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002068680 SCV002339344 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346109 SCV002651632 likely benign Cardiovascular phenotype 2022-01-05 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486947 SCV004240659 likely benign Cardiomyopathy 2022-09-08 criteria provided, single submitter clinical testing

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