ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3883+15_3883+16del (rs137854278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189922 SCV000243586 benign not specified 2014-01-23 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,INFANT-EPI panel(s).
Tuberous sclerosis database (TSC2) RCV000042771 SCV000066567 not provided Tuberous sclerosis syndrome no assertion provided curation

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