ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)

gnomAD frequency: 0.00021  dbSNP: rs374743518
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083683 SCV000771011 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 RCV000827168 SCV000968795 benign not provided 2018-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000827168 SCV002063155 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7
Ambry Genetics RCV002358862 SCV002649497 likely benign Cardiovascular phenotype 2019-07-16 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.
Fulgent Genetics, Fulgent Genetics RCV002507114 SCV002796711 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-24 criteria provided, single submitter clinical testing

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