ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+2T>C

dbSNP: rs397515170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579195 SCV000681376 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing 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: 31855466, 34358384, 30692697)
Institute of Human Genetics, Heidelberg University RCV000722175 SCV005871379 pathogenic Tuberous sclerosis 2 2024-12-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055455 SCV000083676 not provided Tuberous sclerosis syndrome no assertion provided curation
Baylor Genetics RCV000722175 SCV000854628 pathogenic Tuberous sclerosis 2 2018-11-18 no assertion criteria provided clinical testing

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