ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.30G>A (p.Leu10=)

gnomAD frequency: 0.00002  dbSNP: rs202047149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082721 SCV000755369 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732519 SCV000860485 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing

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