ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.482-4C>T

gnomAD frequency: 0.00001  dbSNP: rs780938957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945068 SCV001091054 likely benign Tuberous sclerosis 2 2023-03-21 criteria provided, single submitter clinical testing
GeneDx RCV001655648 SCV001870990 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000945068 SCV002041228 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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