ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.699G>A (p.Val233=)

gnomAD frequency: 0.00001  dbSNP: rs764527541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194156 SCV000247382 uncertain significance not specified 2015-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000950919 SCV001097264 likely benign Walker-Warburg congenital muscular dystrophy 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001582685 SCV001813015 likely benign not provided 2021-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372163 SCV002668059 likely benign Cardiovascular phenotype 2022-03-03 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.

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