ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.848+1G>A (rs45466296)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190083 SCV000243758 pathogenic not provided 2014-10-13 criteria provided, single submitter clinical testing c.848+1 G>A: IVS9+1 G>A in intron 9 of the TSC2 gene (NM_000548.3) The c.848+1 G>A splice site mutation in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Au et al., 2007; TSC2 LOVD). This mutation destroys the canonical splice donor site in intron 9 and is expected to cause abnormal gene splicing. The variant is found in TUBSC-EPIV2 panel(s).
Athena Diagnostics Inc RCV000201109 SCV000255921 pathogenic Tuberous sclerosis 2 2013-06-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043189 SCV000066990 not provided Tuberous sclerosis syndrome no assertion provided curation

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