ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=)

gnomAD frequency: 0.00002  dbSNP: rs782302903
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866709 SCV001007841 benign Creatine transporter deficiency 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001574311 SCV001801108 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001574311 SCV005893363 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing SLC6A8: BP4, BP7, BS2

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