ClinVar Miner

Submissions for variant NM_000505.4(F12):c.1272G>C (p.Thr424=)

gnomAD frequency: 0.00486  dbSNP: rs61737766
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339217 SCV000456701 likely benign Hereditary angioneurotic edema 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390084 SCV000456702 likely benign Factor XII deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330431 SCV000484120 likely benign Nephrolithiasis/osteoporosis, hypophosphatemic 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861570 SCV001001932 benign not provided 2024-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001153637 SCV001314933 likely benign Hereditary angioedema type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV002480228 SCV002801611 likely benign Factor XII deficiency disease; Hereditary angioedema type 3 2021-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000861570 SCV005222573 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004732856 SCV005364146 benign F12-related disorder 2024-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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