ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) (rs34870424)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122222 SCV000169134 benign not specified 2013-02-28 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 RCV000130495 SCV000185364 benign Hereditary cancer-predisposing syndrome 2015-01-19 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 RCV000224830 SCV000281429 benign not provided 2016-04-25 criteria provided, single submitter clinical testing
Invitae RCV000234417 SCV000285347 benign Tuberous sclerosis 2 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122222 SCV000305197 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122222 SCV000339345 benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224830 SCV000844572 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224830 SCV000884756 benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042811 SCV000066607 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122222 SCV000086443 not provided not specified 2013-09-19 no assertion provided reference population

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