ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)

dbSNP: rs45517159
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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 RCV000201101 SCV000255872 pathogenic Tuberous sclerosis 2 2012-12-17 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043444 SCV000067251 not provided Tuberous sclerosis syndrome no assertion provided curation

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