ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4663-16_4663-15del

dbSNP: rs796053477
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189935 SCV000243602 benign not specified 2014-07-28 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
PreventionGenetics, part of Exact Sciences RCV000189935 SCV000305230 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797672 SCV002039506 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001797672 SCV002444793 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing

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