Submissions for variant NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)

gnomAD frequency: 0.07770  dbSNP: rs1861050

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000114165	SCV000306425	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269461	SCV000447700	benign	Joubert syndrome 9	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	RCV000329244	SCV000447701	benign	Meckel syndrome, type 6	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860404	SCV001000446	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000987414	SCV001136704	benign	Joubert syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001711272	SCV001939358	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23352160, 27535653)
Breakthrough Genomics, Breakthrough Genomics	RCV001711272	SCV005298561	benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000114165	SCV005622239	benign	not specified	2023-10-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000114165	SCV000147716	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000114165	SCV001929263	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000114165	SCV001960125	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000114165	SCV001966549	benign	not specified		no assertion criteria provided	clinical testing