ClinVar Miner

Submissions for variant NM_024006.6(VKORC1):c.129C>T (p.Cys43=)

gnomAD frequency: 0.00401  dbSNP: rs61742233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973971 SCV001121767 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120433 SCV001278917 likely benign Vitamin K-dependent clotting factors, combined deficiency of, type 2 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000973971 SCV004041967 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing VKORC1: BP4, BS2

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