ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1698+11G>C

dbSNP: rs115243626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247951 SCV000311740 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722327 SCV000526012 likely benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058223 SCV002407604 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing

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