ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)

dbSNP: rs1596386166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993370 SCV001146280 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258084 SCV002533389 likely benign Hereditary cancer-predisposing syndrome 2020-08-04 criteria provided, single submitter curation
Invitae RCV003769323 SCV004631689 likely benign Tuberous sclerosis 2 2023-03-27 criteria provided, single submitter clinical testing

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