ClinVar Miner

Submissions for variant NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe)

gnomAD frequency: 0.00001  dbSNP: rs773928062
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002222279 SCV002499672 uncertain significance Heparin cofactor II deficiency 2022-03-29 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2

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