ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.819C>T (p.Val273=)

gnomAD frequency: 0.00021  dbSNP: rs143750068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704361 SCV000528692 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Invitae RCV000865627 SCV001006622 benign Creatine transporter deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912734 SCV004738726 likely benign SLC6A8-related condition 2019-06-18 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).

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