ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)

dbSNP: rs45517158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660342 SCV000782398 pathogenic Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000660342 SCV005418927 pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PP4
Tuberous sclerosis database (TSC2) RCV000043443 SCV000067250 not provided Tuberous sclerosis syndrome no assertion provided curation

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