ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.*61_*62del

dbSNP: rs36032671
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000043440 SCV000395693 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001668175 SCV001889667 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043440 SCV000067247 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055505 SCV000083728 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699112 SCV001927109 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699112 SCV001973186 benign not specified no assertion criteria provided clinical testing

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