ClinVar Miner

Submissions for variant NM_000505.4(F12):c.-62C>T

gnomAD frequency: 0.00223  dbSNP: rs187018744
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286884 SCV000484125 likely benign Factor XII deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323254 SCV000484126 likely benign Hereditary angioneurotic edema 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502417 SCV002813676 likely benign Factor XII deficiency disease; Hereditary angioedema type 3 2022-05-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705516 SCV005222577 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004705516 SCV005434391 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing F12: BS2

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