ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.831G>A (p.Val277=)

gnomAD frequency: 0.00006  dbSNP: rs149357346
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522620 SCV001732195 benign Creatine transporter deficiency 2023-06-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832722 SCV002084557 likely benign Creatine deficiency syndrome 1 2020-01-09 no assertion criteria provided clinical testing

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