ClinVar Miner

Submissions for variant NM_003042.3(SLC6A1):c.1328del

dbSNP: rs1199489242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782096 SCV000920568 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000782096 SCV001249729 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing

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