ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2313C>T (p.Ala771=)

gnomAD frequency: 0.00002  dbSNP: rs764289801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000284282 SCV000343073 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Invitae RCV001088156 SCV000770629 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-08 criteria provided, single submitter clinical testing

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