ClinVar Miner

Submissions for variant NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)

gnomAD frequency: 0.00161  dbSNP: rs5907
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000016092 SCV001141334 benign Heparin cofactor II deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000016092 SCV000036360 pathogenic Heparin cofactor II deficiency 1989-03-25 no assertion criteria provided literature only

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