ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) (rs11498198)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000335280 SCV000463691 benign Cleidocranial dysostosis 2018-01-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506710 SCV000605047 benign none provided 2020-01-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514756 SCV000610068 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000335280 SCV000803484 benign Cleidocranial dysostosis 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Cleidocranial dysplasia, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age (PMID:10521292).
Invitae RCV000514756 SCV001099445 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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