ClinVar Miner

Submissions for variant NM_001010898.4(SLC6A17):c.754-4G>A

gnomAD frequency: 0.00004  dbSNP: rs773243821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333632 SCV001526279 uncertain significance Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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