ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1701C>T (p.Ser567=)

gnomAD frequency: 0.00456  dbSNP: rs142579425
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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 RCV000244261 SCV000306916 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244261 SCV000527452 benign not specified 2018-01-18 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 RCV000535392 SCV000650605 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000244261 SCV001879937 benign not specified 2021-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437036 SCV004147401 benign not provided 2023-12-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7, BS1, BS2

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