ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3883+37C>T

gnomAD frequency: 0.00038  dbSNP: rs45517315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003389752 SCV004129848 benign not provided 2022-03-01 criteria provided, single submitter clinical testing TSC2: BS1, BS2
Tuberous sclerosis database (TSC2) RCV000042772 SCV000066568 not provided Tuberous sclerosis syndrome no assertion provided curation

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