ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1977G>C (p.Arg659=)

gnomAD frequency: 0.00002  dbSNP: rs746640722
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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) RCV000383254 SCV000335515 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765604 SCV004567765 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-11-20 criteria provided, single submitter clinical testing

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