ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1257+2T>G

dbSNP: rs45509697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516685 SCV000615880 pathogenic not provided 2017-06-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055064 SCV000083282 not provided Tuberous sclerosis syndrome no assertion provided curation

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