ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu)

dbSNP: rs1588493803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806701 SCV000946715 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2021-08-30 criteria provided, single submitter clinical testing

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