ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1920C>T (p.Gly640=)

gnomAD frequency: 0.00013  dbSNP: rs150755807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288282 SCV000333106 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559221 SCV000649934 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 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000288282 SCV001802658 likely benign not provided 2021-03-13 criteria provided, single submitter clinical testing

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