ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1044+16C>T

dbSNP: rs1222775225
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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 RCV002105471 SCV002397913 likely benign Walker-Warburg congenital muscular dystrophy 2024-10-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005058030 SCV005726882 likely benign not specified 2024-11-10 criteria provided, single submitter clinical testing

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