Submissions for variant NM_203486.3(DLL3):c.63C>T (p.Leu21=)

gnomAD frequency: 0.00109  dbSNP: rs146255899

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728404	SCV000855975	likely benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001130367	SCV001289941	likely benign	Spondylocostal dysostosis 1, autosomal recessive	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.
Illumina Laboratory Services, Illumina	RCV001130368	SCV001289942	likely benign	Syndactyly	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514752	SCV001722671	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001130367	SCV002050072	likely benign	Spondylocostal dysostosis 1, autosomal recessive	2022-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001514752	SCV002575131	likely benign	not provided	2019-10-22	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.