ClinVar Miner

Submissions for variant NM_001010898.4(SLC6A17):c.286+10A>G

gnomAD frequency: 0.00119  dbSNP: rs187996451
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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 RCV000897173 SCV001041298 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001337077 SCV001530642 uncertain significance Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 2018-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001818723 SCV002066557 likely benign not specified 2018-05-02 criteria provided, single submitter clinical testing

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