ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1253G>T (p.Gly418Val)

gnomAD frequency: 0.00001  dbSNP: rs121965071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012678 SCV000220372 likely pathogenic Hereditary factor XI deficiency disease 2014-06-06 criteria provided, single submitter literature only
Genome-Nilou Lab RCV000012678 SCV001810419 likely pathogenic Hereditary factor XI deficiency disease 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000012678 SCV003831087 likely pathogenic Hereditary factor XI deficiency disease 2021-11-17 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000012678 SCV005416654 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PS4_Moderate
OMIM RCV000012678 SCV000032913 pathogenic Hereditary factor XI deficiency disease 2004-07-01 no assertion criteria provided literature only

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