ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.948G>A (p.Pro316=) (rs45517141)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125639 SCV000169100 benign not specified 2013-03-01 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.
Ambry Genetics RCV000163422 SCV000213966 likely benign Hereditary cancer-predisposing syndrome 2015-01-01 criteria provided, single submitter clinical testing
Invitae RCV001083605 SCV000261549 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125639 SCV000305262 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756828 SCV000884755 benign not provided 2017-09-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125639 SCV000966344 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro316Pro in exon 10 of TSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.3% (56/4392) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs45517141).
Athena Diagnostics Inc RCV000756828 SCV001146292 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042655 SCV000066450 not provided Tuberous sclerosis syndrome no assertion provided curation

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