ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) (rs61752387)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081191 SCV000113099 benign not specified 2015-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000081191 SCV000170230 benign not specified 2013-10-22 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 RCV000081191 SCV000193622 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000081191 SCV000537193 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
Invitae RCV000458852 SCV000556737 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659842 SCV000781715 uncertain significance Rett syndrome 2016-11-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000659842 SCV000803468 benign Rett syndrome 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Rett syndrome, in X-linked Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS4 => Lack of segregation in affected members of a family (PMID:12567420) (PMID:12161600). BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
RettBASE RCV000081191 SCV000187840 benign not specified 2010-05-14 no assertion criteria provided curation

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