ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1725C>T (p.His575=)

dbSNP: rs2148364840
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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 RCV002164545 SCV002480026 likely benign Creatine transporter deficiency 2020-12-03 criteria provided, single submitter clinical testing

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