ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.36C>A (p.Ser12=)

gnomAD frequency: 0.00014  dbSNP: rs771074829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874248 SCV001016391 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 2024-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392656 SCV004130196 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing POMT2: BP4, BP7

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