ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1656A>G (p.Ala552=) (rs373515515)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989419 SCV000262216 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989419 SCV001139742 likely benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000206816 SCV001150694 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012581 SCV001173050 likely benign Hereditary cancer-predisposing syndrome 2015-11-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000055049 SCV001275642 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Tuberous sclerosis database (TSC2) RCV000055049 SCV000083267 not provided Tuberous sclerosis syndrome no assertion provided curation

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