ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1627G>A (p.Glu543Lys)

gnomAD frequency: 0.00001  dbSNP: rs142952627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666223 SCV000790480 uncertain significance Hereditary factor XI deficiency disease 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV004588092 SCV005078673 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 25158988)
Mayo Clinic Laboratories, Mayo Clinic RCV004588092 SCV005410643 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing PM1_supporting, PM2_moderate

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