ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1248C>G (p.Leu416=)

dbSNP: rs774804160
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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 RCV002106353 SCV002439739 likely benign Walker-Warburg congenital muscular dystrophy 2024-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434434 SCV004158483 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FKTN: BP4, BP7

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