ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.876= (p.Thr292=)

gnomAD frequency: 0.11723  dbSNP: rs10901065
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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 RCV000536935 SCV000649912 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576545 SCV000677419 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2017-04-14 criteria provided, single submitter clinical testing

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