ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)

dbSNP: rs1421997373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644229 SCV000765920 likely benign Tuberous sclerosis 2 2022-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001534216 SCV001751120 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644229 SCV002039405 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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