ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) (rs150397923)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122235 SCV000169151 benign not specified 2014-02-12 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 RCV000163417 SCV000213960 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223969 SCV000280630 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000223969 SCV000285396 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122235 SCV000305220 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122235 SCV000336911 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055339 SCV000395654 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000226742 SCV000677548 benign Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055339 SCV000083559 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122235 SCV000086458 not provided not specified 2013-09-19 no assertion provided reference population

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