ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1014C>T (p.Ile338=)

gnomAD frequency: 0.00001  dbSNP: rs773685771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416615 SCV001618798 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2018-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000648804 SCV002544815 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7

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