ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.438G>T (p.Arg146=)

dbSNP: rs769735457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495758 SCV001700447 likely benign Walker-Warburg congenital muscular dystrophy 2022-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329609 SCV002629857 likely benign Cardiovascular phenotype 2022-02-14 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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