ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.342A>G (p.Ala114=)

gnomAD frequency: 0.00002  dbSNP: rs368598407
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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) RCV000593496 SCV000705656 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088890 SCV001107671 likely benign Walker-Warburg congenital muscular dystrophy 2024-10-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265815 SCV002548422 likely benign not specified 2022-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456304 SCV002615562 likely benign Cardiovascular phenotype 2020-02-11 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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