ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1308G>A (p.Thr436=)

gnomAD frequency: 0.00017  dbSNP: rs143763229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252680 SCV000306915 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725488 SCV000337265 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000252680 SCV000727868 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088417 SCV000770624 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725488 SCV004147400 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7

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