ClinVar Miner

Submissions for variant NM_000505.4(F12):c.711C>T (p.Pro237=)

gnomAD frequency: 0.02352  dbSNP: rs17876047
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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 RCV000308826 SCV000456726 benign Factor XII deficiency disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000363476 SCV000456727 benign Hereditary angioedema type 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeMIA RCV000363476 SCV001441479 benign Hereditary angioedema type 3 criteria provided, single submitter clinical testing The synonymous variant c.711C>T, located in exon 8 of the F12 gene, was detected in our cohort in 8 nC1-INH-HAE and 6 type I C1-INH-HAE patients. It has been detected in 2.275% alleles worldwide (gnomAD database) and its allele frequency is greater than that expected for FXII-HAE. The variant is reported as benign in ClinVar database in patients with FXII-HAE. Taking all the above into account and according to ACMG Guidelines (Criteria: BS1, BS2, BP5, BP6) the variant is considered benign.
GeneDx RCV001683404 SCV001897305 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683404 SCV002460455 benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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