ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)

dbSNP: rs45517393
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517378 SCV000615921 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042610 SCV000066404 not provided Tuberous sclerosis syndrome no assertion provided curation

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