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

gnomAD frequency: 0.00864  dbSNP: rs11498198

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, 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	RCV000514756	SCV000605047	benign	not provided	2023-10-18	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	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000514756	SCV001782933	likely benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32360898)
Fulgent Genetics, Fulgent Genetics	RCV002504174	SCV002801961	benign	Cleidocranial dysostosis; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	2021-08-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514756	SCV004810842	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	RUNX2: BS1, BS2