ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.98T>C (p.Leu33Pro)

dbSNP: rs33948578
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480032 SCV004224306 pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing PP3, PM2, PM6, PS4_moderate
OMIM RCV000016546 SCV000036814 other HEMOGLOBIN PERTH 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016547 SCV000036815 other HEMOGLOBIN ABRAHAM LINCOLN 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016548 SCV000036816 other HEMOGLOBIN KOBE 2017-12-12 no assertion criteria provided literature only

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