ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) (rs137854210)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201083 SCV000255895 pathogenic Tuberous sclerosis 2 2012-06-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195892 SCV001366316 pathogenic Global developmental delay; Subependymal nodules; Cortical tubers; Hypomelanotic macule; Adenoma sebaceum 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PM5,PP3. This variant was detected in heterozygous state.
Tuberous sclerosis database (TSC2) RCV000042799 SCV000066595 not provided Tuberous sclerosis syndrome no assertion provided curation

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