ClinVar Miner

Submissions for variant NM_000821.7(GGCX):c.189C>T (p.Ser63=)

gnomAD frequency: 0.00277  dbSNP: rs41290035
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000383382 SCV000432288 likely benign Vitamin K-dependent clotting factors, combined deficiency of, type 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001723930 SCV002457148 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001723930 SCV004155123 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing GGCX: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003922465 SCV004739792 likely benign GGCX-related condition 2019-06-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723930 SCV001951309 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723930 SCV001973844 likely benign not provided no assertion criteria provided clinical testing

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