ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)

gnomAD frequency: 0.00119  dbSNP: rs201069454
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243782 SCV000307958 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243782 SCV000344362 likely benign not specified 2016-08-11 criteria provided, single submitter clinical testing
GeneDx RCV001705355 SCV000519428 benign not provided 2019-12-10 criteria provided, single submitter clinical testing
Invitae RCV000526421 SCV000651048 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705355 SCV002545561 benign not provided 2024-04-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7, BS1, BS2
Ambry Genetics RCV002338800 SCV002642584 likely benign Cardiovascular phenotype 2018-12-04 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 RCV002487123 SCV002794555 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000243782 SCV004038052 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486789 SCV004240651 benign Cardiomyopathy 2022-11-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000243782 SCV001923605 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243782 SCV001929770 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243782 SCV001957567 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243782 SCV001970487 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001705355 SCV002035593 likely benign not provided no assertion criteria provided clinical testing

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