ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) (rs35693326)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080071 SCV000111966 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000080071 SCV000167649 benign not specified 2012-06-05 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.
Genetic Services Laboratory, University of Chicago RCV000080071 SCV000192629 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224801 SCV000281385 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080071 SCV000309464 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000473418 SCV000558800 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2017-08-07 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659292 SCV000781096 benign West syndrome 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715094 SCV000845919 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing
RettBASE RCV000080071 SCV000188373 benign not specified 2014-05-09 no assertion criteria provided curation Found in unaffected mother with apparent balanced X-chromosome inactivation; in exon 20, affecting only the transcript lowly expressed; In silico prediction: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000080071 SCV000256048 benign not specified 2015-02-13 no assertion criteria provided clinical testing

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