ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2192C>T (p.Ala731Val)

gnomAD frequency: 0.00005  dbSNP: rs375071274
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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) RCV000325409 SCV000335010 uncertain significance not provided 2015-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500518 SCV001705309 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-17 criteria provided, single submitter clinical testing

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