ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.648-1243G>A

dbSNP: rs1554754182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506520 SCV001711442 likely benign Walker-Warburg congenital muscular dystrophy 2020-07-14 criteria provided, single submitter clinical testing

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