ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1101G>A (p.Arg367=)

dbSNP: rs45517149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514179 SCV001089729 likely benign Tuberous sclerosis 2 2022-08-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584602 SCV005075402 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TSC2: PM2:Supporting, BP4, BP7
Tuberous sclerosis database (TSC2) RCV000043429 SCV000067235 not provided Tuberous sclerosis syndrome no assertion provided curation

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