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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