ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.925-8T>C

gnomAD frequency: 0.00006  dbSNP: rs199804785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721366 SCV000531199 benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Invitae RCV001522589 SCV001732164 benign DYRK1A-related intellectual disability syndrome 2023-12-13 criteria provided, single submitter clinical testing

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