Submissions for variant NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)

gnomAD frequency: 0.00005  dbSNP: rs374700658

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000273936	SCV000419525	likely benign	Congenital vertical talus	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.
Revvity Omics, Revvity	RCV000273936	SCV003808758	uncertain significance	Congenital vertical talus	2020-11-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437059	SCV004150136	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	HOXD10: PP4
Breakthrough Genomics, Breakthrough Genomics	RCV003437059	SCV005257103	likely benign	not provided		criteria provided, single submitter	not provided