ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.2136A>G (p.Gln712=)

gnomAD frequency: 0.00001  dbSNP: rs771939851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952219 SCV001098703 likely benign DYRK1A-related intellectual disability syndrome 2020-03-05 criteria provided, single submitter clinical testing

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