ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.174C>T (p.His58=)

gnomAD frequency: 0.00001  dbSNP: rs760114682
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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 RCV002166231 SCV002471606 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896008 SCV004715003 likely benign DAG1-related disorder 2023-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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