ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2838-5G>A

dbSNP: rs876660419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215695 SCV000277826 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The c.2838-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 25 in the TSC2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV000280090 SCV000395618 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001436828 SCV001639672 likely benign Tuberous sclerosis 2 2022-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001436828 SCV002039695 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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