ClinVar Miner

Submissions for variant NM_001010898.4(SLC6A17):c.484G>A (p.Gly162Arg)

dbSNP: rs775085213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000167526 SCV000218384 pathogenic Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 2015-03-05 no assertion criteria provided literature only

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