ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2043C>T (p.Ile681=)

dbSNP: rs543326525
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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) RCV000301542 SCV000337125 uncertain significance not provided 2015-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519153 SCV003469534 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-09-05 criteria provided, single submitter clinical testing

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