ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.336+32C>T

gnomAD frequency: 0.00456  dbSNP: rs45517103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262604 SCV002545337 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing TSC2: BS2
Tuberous sclerosis database (TSC2) RCV000043075 SCV000066874 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000119928 SCV000084058 not provided not specified 2013-09-19 no assertion provided reference population

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