ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)

gnomAD frequency: 0.02758  dbSNP: rs2307131
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147539 SCV000171753 benign not specified 2012-05-02 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.
Genetic Services Laboratory, University of Chicago RCV000147539 SCV000194986 likely benign not specified 2013-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147539 SCV000311454 benign not specified 2016-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460704 SCV000560940 benign Christianson syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312607 SCV000845903 benign Inborn genetic diseases 2015-09-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004703415 SCV005206800 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000147539 SCV001926789 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000147539 SCV001959940 benign not specified no assertion criteria provided clinical testing

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