ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.717C>T (p.Thr239=)

gnomAD frequency: 0.00023  dbSNP: rs762375285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697478 SCV000719918 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
Invitae RCV000870090 SCV001011565 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377265 SCV002667008 likely benign Cardiovascular phenotype 2019-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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