Submissions for variant NM_001365088.1(SLC12A6):c.271+17825C>T

gnomAD frequency: 0.00276  dbSNP: rs150751809

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202720	SCV000258015	uncertain significance	not specified	2015-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532255	SCV001747726	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLC12A6: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001532255	SCV004564050	likely benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977557	SCV004798546	likely benign	SLC12A6-related disorder	2019-05-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001532255	SCV001920398	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000202720	SCV001972322	benign	not specified		no assertion criteria provided	clinical testing