ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.593G>A (p.Arg198His)

gnomAD frequency: 0.00200  dbSNP: rs148785195
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279192 SCV000459714 benign Metaphyseal chondrodysplasia, Schmid type 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000435510 SCV000511109 likely benign not provided 2017-01-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000435510 SCV001025212 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000435510 SCV001783358 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 1329505, 15880705)
CeGaT Center for Human Genetics Tuebingen RCV000435510 SCV004160020 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing COL10A1: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000435510 SCV001799274 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000435510 SCV001973023 likely benign not provided no assertion criteria provided clinical testing

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