ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) (rs759047948)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445291 SCV000515003 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000458428 SCV000562496 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561112 SCV000675347 likely benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000445291 SCV000712537 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing p.Asn1015Asn in exon 23 of TSC1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/6614 Finnish ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs759047948).

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