ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4178_4179CT[1] (p.Leu1394fs) (rs137854363)

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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 RCV000201157 SCV000255899 pathogenic Tuberous sclerosis 2 2013-07-19 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043327 SCV000067133 not provided Tuberous sclerosis syndrome no assertion provided curation

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