Submissions for variant NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)

gnomAD frequency: 0.00061  dbSNP: rs146124454

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000364220	SCV000337192	benign	not specified	2015-11-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000547867	SCV000443223	benign	Osteogenesis imperfecta type 7	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547867	SCV000641172	benign	Osteogenesis imperfecta type 7	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000364220	SCV000729101	benign	not specified	2017-06-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278288	SCV002564822	benign	Osteogenesis imperfecta	2022-05-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573099	SCV005245104	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573099	SCV001798465	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000364220	SCV001806843	benign	not specified		no assertion criteria provided	clinical testing