ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.427+12G>A

gnomAD frequency: 0.00009  dbSNP: rs372588957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250951 SCV000311755 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058225 SCV002336519 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-16 criteria provided, single submitter clinical testing

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