ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV003388817 SCV004100669 likely pathogenic Creatine transporter deficiency 2023-05-04 criteria provided, single submitter clinical testing

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