ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.15G>A (p.Val5=)

dbSNP: rs1405959055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531396 SCV001746474 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071899 SCV002392079 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-12-19 criteria provided, single submitter clinical testing

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