ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2580G>A (p.Ala860=)

gnomAD frequency: 0.00001  dbSNP: rs886044253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316862 SCV000344167 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765672 SCV004576695 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-02-16 criteria provided, single submitter clinical testing

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