ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2658del (p.Glu887fs)

dbSNP: rs397514788
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tuberous sclerosis database (TSC1) RCV000054896 SCV000083111 not provided Tuberous sclerosis syndrome no assertion provided curation

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