ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.495C>A (p.Cys165Ter) (rs118203388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005408 SCV000025590 pathogenic Lymphangiomyomatosis 2002-01-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC1) RCV000005408 SCV000066087 not provided Lymphangiomyomatosis no assertion provided curation

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