ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)

dbSNP: rs755379319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378776 SCV000338509 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519182 SCV003445798 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-09 criteria provided, single submitter clinical testing

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