ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.513A>G (p.Thr171=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002623751 SCV003505417 likely benign Creatine transporter deficiency 2022-08-22 criteria provided, single submitter clinical testing

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