ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.166-9C>T

dbSNP: rs1361772036
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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) RCV000594841 SCV000708340 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532626 SCV003441653 likely benign Walker-Warburg congenital muscular dystrophy 2024-05-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543380 SCV004771031 likely benign FKTN-related disorder 2020-02-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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