ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.258C>T (p.Asn86=)

dbSNP: rs1554751233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504564 SCV001709447 likely benign Walker-Warburg congenital muscular dystrophy 2023-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432667 SCV004158481 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing FKTN: PM2:Supporting, BP4, BP7

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