ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2022C>T (p.Ile674=)

gnomAD frequency: 0.00004  dbSNP: rs199795910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002195971 SCV002488374 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-06-27 criteria provided, single submitter clinical testing

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