ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)

gnomAD frequency: 0.00028  dbSNP: rs145775351
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374523 SCV000390306 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.
Invitae RCV000877388 SCV001020120 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000374523 SCV002055430 benign Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000877388 SCV002063405 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC12A6: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000374523 SCV002505995 benign Agenesis of the corpus callosum with peripheral neuropathy 2022-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298376 SCV003989453 likely benign Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV000374523 SCV001454670 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-04-18 no assertion criteria provided clinical testing

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