ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2329del (p.Ser777fs)

dbSNP: rs397514780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333395 SCV001525956 pathogenic Lymphangiomyomatosis 2018-11-21 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Tuberous sclerosis database (TSC1) RCV000054883 SCV000083098 not provided Tuberous sclerosis syndrome no assertion provided curation

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