ClinVar Miner

Submissions for variant NM_000128.4(F11):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00003  dbSNP: rs755700350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595418 SCV000702032 likely pathogenic not provided 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497250 SCV002810994 likely pathogenic Hereditary factor XI deficiency disease 2022-04-09 criteria provided, single submitter clinical testing

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