ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2640-4T>C

dbSNP: rs1596366489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000934607 SCV001080333 likely benign Tuberous sclerosis 2 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016169 SCV001177089 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-30 criteria provided, single submitter clinical testing The c.2640-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 23 in the TSC2 gene. This nucleotide position is poorly 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.
Genome-Nilou Lab RCV000934607 SCV002039674 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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