ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.718C>T (p.Leu240=)

gnomAD frequency: 0.00001  dbSNP: rs2091458962
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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 RCV002182710 SCV002349850 likely benign Creatine transporter deficiency 2023-11-10 criteria provided, single submitter clinical testing

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