ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.42C>T (p.Ser14=)

dbSNP: rs1060504719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458167 SCV000561160 likely benign Creatine transporter deficiency 2023-11-27 criteria provided, single submitter clinical testing

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