ClinVar Miner

Submissions for variant NM_000128.4(F11):c.188C>T (p.Ala63Val)

gnomAD frequency: 0.00001  dbSNP: rs281875244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670641 SCV000795519 uncertain significance Hereditary factor XI deficiency disease 2017-11-08 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059023 SCV000090544 not provided not provided no assertion provided not provided

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