Submissions for variant NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)

gnomAD frequency: 0.00836  dbSNP: rs145186782

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363024	SCV000390326	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871281	SCV001012903	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000871281	SCV001471764	benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000363024	SCV001736830	benign	Agenesis of the corpus callosum with peripheral neuropathy	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000363024	SCV001806540	benign	Agenesis of the corpus callosum with peripheral neuropathy	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000871281	SCV001903100	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321990	SCV002628320	likely benign	Inborn genetic diseases	2022-03-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000871281	SCV004033372	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLC12A6: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000871281	SCV005214377	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000363024	SCV001454682	benign	Agenesis of the corpus callosum with peripheral neuropathy	2020-04-18	no assertion criteria provided	clinical testing