ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.717G>A (p.Ser239=)

gnomAD frequency: 0.00001  dbSNP: rs780120566
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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) RCV000288424 SCV000334059 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439897 SCV001642800 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-10-22 criteria provided, single submitter clinical testing

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