ClinVar Miner

Submissions for variant NM_000128.4(F11):c.325+5G>T

gnomAD frequency: 0.00002  dbSNP: rs372102736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670123 SCV000794940 uncertain significance Hereditary factor XI deficiency disease 2017-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670123 SCV002816068 uncertain significance Hereditary factor XI deficiency disease 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692066 SCV005190355 uncertain significance not provided criteria provided, single submitter not provided

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