ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1481-1G>C

dbSNP: rs1057516506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666958 SCV000791335 likely pathogenic Hereditary factor XI deficiency disease 2017-05-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792363 SCV005413679 likely pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing PM2_moderate, PVS1

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