ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg)

gnomAD frequency: 0.00006  dbSNP: rs199728911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217575 SCV001389421 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-10-05 criteria provided, single submitter clinical testing

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