ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)

gnomAD frequency: 0.00031  dbSNP: rs202027738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001580494 SCV000529443 likely benign not provided 2021-08-05 criteria provided, single submitter clinical testing
Invitae RCV000555864 SCV000651050 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001580494 SCV002545562 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7, BS1
Ambry Genetics RCV002339061 SCV002644095 likely benign Cardiovascular phenotype 2019-01-14 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 RCV002506056 SCV002810228 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-18 criteria provided, single submitter clinical testing

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