ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)

dbSNP: rs369117043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729524 SCV000857194 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001416966 SCV001619158 likely benign Walker-Warburg congenital muscular dystrophy 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303210 SCV003997505 likely benign Cardiovascular phenotype 2023-05-11 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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