ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) (rs147017239)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000132845 SCV000513568 likely benign not specified 2018-03-06 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.
Invitae RCV000645112 SCV000766854 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000030161 SCV001142084 benign Rett syndrome 2019-05-28 criteria provided, single submitter clinical testing
New York Genome Center RCV001256044 SCV001432830 likely benign Seizures; Intellectual disability 2019-12-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030161 SCV000052819 benign Rett syndrome 2015-05-21 no assertion criteria provided clinical testing
RettBASE RCV000132845 SCV000187824 benign not specified 2012-09-27 no assertion criteria provided curation

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