Submissions for variant NM_001365088.1(SLC12A6):c.3042+8A>G

gnomAD frequency: 0.00245  dbSNP: rs186141509

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176331	SCV000227966	likely benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310143	SCV000390299	likely benign	Agenesis of the corpus callosum with peripheral neuropathy	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.
GeneDx	RCV000176331	SCV000514633	benign	not specified	2015-07-16	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.
Invitae	RCV000871739	SCV001013446	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000310143	SCV001159098	benign	Agenesis of the corpus callosum with peripheral neuropathy	2019-02-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000871739	SCV001500655	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SLC12A6: BP4, BS2
Genome-Nilou Lab	RCV000310143	SCV002055426	benign	Agenesis of the corpus callosum with peripheral neuropathy	2021-07-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000310143	SCV001454667	uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	2020-04-18	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000871739	SCV001797633	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000871739	SCV001918157	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000871739	SCV001926617	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000871739	SCV001973151	likely benign	not provided		no assertion criteria provided	clinical testing