ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1179A>G (p.Val393=)

gnomAD frequency: 0.00179  dbSNP: rs145894568
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178362 SCV000230428 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000711659 SCV000513041 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086801 SCV000630829 benign Walker-Warburg congenital muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711659 SCV000842046 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178362 SCV002065976 likely benign not specified 2019-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336437 SCV002640182 likely benign Cardiovascular phenotype 2019-02-08 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.
CeGaT Center for Human Genetics Tuebingen RCV000711659 SCV005330842 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004537462 SCV004750408 likely benign FKRP-related disorder 2020-01-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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