ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.942C>T (p.Thr314=) (rs10901065)

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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 Inc RCV000576545 SCV000677419 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000536935 SCV000649912 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-11-15 criteria provided, single submitter clinical testing

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