ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile)

gnomAD frequency: 0.00002  dbSNP: rs200597760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001401910 SCV001603748 likely benign DYRK1A-related intellectual disability syndrome 2023-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001569610 SCV001793725 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569610 SCV004153653 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing DYRK1A: BP4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252224 SCV001427975 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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