ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.63G>C (p.Leu21=)

gnomAD frequency: 0.00002  dbSNP: rs766642997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406677 SCV000338481 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087279 SCV001009021 likely benign Walker-Warburg congenital muscular dystrophy 2024-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000406677 SCV001802891 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356384 SCV002655623 likely benign Cardiovascular phenotype 2019-10-18 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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