ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1773C>T (p.Phe591=)

gnomAD frequency: 0.00006  dbSNP: rs2229010
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000024447 SCV000229035 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088550 SCV000650606 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000024447 SCV004811751 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7
Leiden Muscular Dystrophy (DAG1) RCV000024447 SCV000045742 not provided not provided 2011-05-13 no assertion provided curation

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