Submissions for variant NM_018136.5(ASPM):c.441+14C>T

gnomAD frequency: 0.74895  dbSNP: rs1571964

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081936	SCV000113871	benign	not specified	2015-07-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081936	SCV000192174	likely benign	not specified	2013-02-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081936	SCV000313169	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000604201	SCV000352754	benign	Microcephaly 5, primary, autosomal recessive	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000604201	SCV000744809	benign	Microcephaly 5, primary, autosomal recessive	2017-05-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000604201	SCV001774935	benign	Microcephaly 5, primary, autosomal recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001650928	SCV001870797	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001650928	SCV002342205	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001650928	SCV005260998	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604201	SCV000733979	benign	Microcephaly 5, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081936	SCV001953363	benign	not specified		no assertion criteria provided	clinical testing