ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)

dbSNP: rs765934383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673207 SCV000798384 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465525 SCV004199725 likely pathogenic Dilated cardiomyopathy 1X 2023-08-24 criteria provided, single submitter clinical testing

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