ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1905C>T (p.Phe635=)

gnomAD frequency: 0.00001  dbSNP: rs577609846
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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) RCV000402242 SCV000333878 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Invitae RCV001081466 SCV001111939 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-06-14 criteria provided, single submitter clinical testing

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