ClinVar Miner

Submissions for variant NM_006371.5(CRTAP):c.213G>A (p.Leu71=)

gnomAD frequency: 0.15448  dbSNP: rs11558338
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173404 SCV000224516 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000600764 SCV000443215 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.
GeneDx RCV000173404 SCV000516236 benign not specified 2016-05-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000600764 SCV001728867 benign Osteogenesis imperfecta type 7 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708070 SCV005245095 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600764 SCV000734259 benign Osteogenesis imperfecta type 7 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000173404 SCV001807512 benign not specified no assertion criteria provided clinical testing

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