ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1452C>A (p.Thr484=)

dbSNP: rs2051362724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474030 SCV001678194 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-08-30 criteria provided, single submitter clinical testing

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