ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)

dbSNP: rs1554817344
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Total submissions: 1
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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 RCV000660334 SCV000782384 likely pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing

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