ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4005+1G>A (rs45517324)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989433 SCV001139756 pathogenic Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV000989433 SCV001364431 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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