ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) (rs752953762)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000298128 SCV000395587 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461333 SCV000544495 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765263 SCV000896516 uncertain significance Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing

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