ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.97= (p.Thr33=)

gnomAD frequency: 0.11778  dbSNP: rs1154510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530083 SCV000631979 benign Hawkinsinuria; Tyrosinemia type III 2024-02-01 criteria provided, single submitter clinical testing
OMIM RCV000001643 SCV000021799 pathogenic Hawkinsinuria 2000-11-01 no assertion criteria provided literature only

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