ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=)

gnomAD frequency: 0.00005  dbSNP: rs782244505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465469 SCV000561167 benign Creatine transporter deficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001696909 SCV000725611 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318563 SCV000850812 likely benign Inborn genetic diseases 2017-02-10 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.
Genetic Services Laboratory, University of Chicago RCV001821364 SCV002066525 benign not specified 2017-08-04 criteria provided, single submitter clinical testing

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