ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2559_2562del (p.Leu853fs) (rs118203711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679899 SCV000807323 pathogenic Tuberous sclerosis 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory (inheritance unknown) in a 6-year-old female with intellectual disability, epilepsy, infantile spasms, hypopigmented skin lesions.
Tuberous sclerosis database (TSC1) RCV000042227 SCV000066013 not provided Tuberous sclerosis syndrome no assertion provided curation

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