ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1251T>C (p.Ala417=)

dbSNP: rs2107935604
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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 RCV001394790 SCV001596480 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-10-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820091 SCV002066952 uncertain significance not specified 2017-09-26 criteria provided, single submitter clinical testing

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