ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1717-48A>G

gnomAD frequency: 0.06916  dbSNP: rs5966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543712 SCV001762532 likely benign Hereditary factor XI deficiency disease 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001694064 SCV001909832 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694064 SCV005256810 likely benign not provided criteria provided, single submitter not provided

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