ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2127G>A (p.Leu709=)

gnomAD frequency: 0.00016  dbSNP: rs138142899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288361 SCV001475407 benign not specified 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065575 SCV002404349 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 2021-06-06 criteria provided, single submitter clinical testing

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