ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) (rs367963898)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079443 SCV000262215 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000205714 SCV001150683 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009773 SCV001169880 likely benign Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Illumina Clinical Services Laboratory,Illumina RCV000055159 SCV001277273 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) RCV000055159 SCV000083377 not provided Tuberous sclerosis syndrome no assertion provided curation

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