ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) (rs397514919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491308 SCV000579613 likely pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Other data supporting pathogenic classification
Tuberous sclerosis database (TSC2) RCV000055098 SCV000083316 not provided Tuberous sclerosis syndrome no assertion provided curation

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