Submissions for variant NM_000095.3(COMP):c.218-14C>T

dbSNP: rs150008764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251511	SCV000302275	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000251511	SCV000341661	benign	not specified	2016-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000395471	SCV000411272	benign	Multiple epiphyseal dysplasia type 1	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.
Illumina Laboratory Services, Illumina	RCV000283361	SCV000411273	benign	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	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	RCV001589229	SCV001159211	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001589229	SCV001823728	likely benign	not provided	2018-10-21	criteria provided, single submitter	clinical testing
Invitae	RCV001589229	SCV002442988	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing