ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.360C>T (p.Tyr120=)

gnomAD frequency: 0.00007  dbSNP: rs781576638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078953 SCV000755366 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000840164 SCV000982083 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458018 SCV002617442 likely benign Cardiovascular phenotype 2019-09-19 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.
CeGaT Center for Human Genetics Tuebingen RCV000840164 SCV004139815 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7

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