ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=)

dbSNP: rs782030501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842155 SCV000984152 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001488078 SCV001692584 likely benign Creatine transporter deficiency 2020-08-20 criteria provided, single submitter clinical testing

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