ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2520T>C (p.Thr840=)

gnomAD frequency: 0.00074  dbSNP: rs149564053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288741 SCV000336867 likely benign not specified 2017-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555044 SCV000650615 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001705418 SCV000717774 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing

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