ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1393-7C>T

dbSNP: rs373525249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707807 SCV000725417 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Invitae RCV000867105 SCV001008298 likely benign Creatine transporter deficiency 2024-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821744 SCV002071155 likely benign not specified 2019-09-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252178 SCV002523437 likely benign See cases 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4, BP6

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