ClinVar Miner

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

dbSNP: rs45517324
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Total submissions: 3
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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
GeneDx RCV005253664 SCV005906586 pathogenic not provided 2024-10-07 criteria provided, single submitter clinical testing Reported previously in patients with tuberous sclerosis complex (PMID: 35918040, 36232477); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35918040, 36232477)
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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