ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) (rs3027928)

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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 RCV000081196 SCV000113104 benign not specified 2017-10-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081196 SCV000247943 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081196 SCV000310759 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000464380 SCV000556735 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000081196 SCV000604149 benign not specified 2018-10-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587510 SCV000698535 benign not provided 2016-03-24 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2425/86448 (1/35 including 248 homozygotes and 583 hemizygotes), which significantly exceeds the predicted maximum expected allele frequency for a pathogenic MECP2 variant of 1/120481. In addition, multiple reputable database/clinical laboratories cite the variant with a classification of "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Ambry Genetics RCV000715138 SCV000845965 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing
RettBASE RCV000081196 SCV000187956 benign not specified 2013-12-05 no assertion criteria provided curation

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