ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.291T>C (p.His97=)

gnomAD frequency: 0.00023  dbSNP: rs149848740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003549592 SCV004254620 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939066 SCV004751628 likely benign DYRK1B-related disorder 2021-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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