ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1393-11C>T

gnomAD frequency: 0.00002  dbSNP: rs1341948115
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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 RCV002118773 SCV002448594 likely benign Creatine transporter deficiency 2023-05-09 criteria provided, single submitter clinical testing

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