ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.770del (p.Ala257fs)

dbSNP: rs1057516966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409829 SCV000486513 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-06-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567885 SCV005057804 likely pathogenic Dilated cardiomyopathy 1X 2024-03-23 criteria provided, single submitter clinical testing

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