ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1641C>T (p.Gly547=)

gnomAD frequency: 0.00002  dbSNP: rs374490206
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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) RCV000273500 SCV000343957 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087927 SCV001018983 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-07-16 criteria provided, single submitter clinical testing

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