ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.366C>T (p.Ile122=)

gnomAD frequency: 0.00003  dbSNP: rs369120591
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251103 SCV000307948 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001416159 SCV001618333 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2020-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000886773 SCV001827065 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450774 SCV002615712 likely benign Cardiovascular phenotype 2018-12-28 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 RCV003486787 SCV004240642 likely benign Cardiomyopathy 2022-09-30 criteria provided, single submitter clinical testing

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