ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=)

gnomAD frequency: 0.00002  dbSNP: rs369726574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703838 SCV000524695 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Invitae RCV000528560 SCV000640029 likely benign Creatine transporter deficiency 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703838 SCV004184952 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SLC6A8: BP4, BP7, BS2

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