ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1368C>T (p.Gly456=)

dbSNP: rs1599940206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479556 SCV001683858 likely benign Walker-Warburg congenital muscular dystrophy 2023-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382057 SCV002700299 likely benign Cardiovascular phenotype 2020-03-29 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.
Natera, Inc. RCV001275322 SCV001460347 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-03-10 no assertion criteria provided clinical testing

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