ClinVar Miner

Submissions for variant NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)

gnomAD frequency: 0.00024  dbSNP: rs201518882
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492161 SCV004232616 benign Retinitis pigmentosa 92 2024-01-23 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755127 SCV000882949 likely pathogenic Nonsyndromic cleft lip palate 2016-03-27 no assertion criteria provided research

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