ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1230C>T (p.Asp410=)

gnomAD frequency: 0.00003  dbSNP: rs782741920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719081 SCV000728727 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311959 SCV000845873 likely benign Inborn genetic diseases 2016-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002064352 SCV002375908 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-18 criteria provided, single submitter clinical testing

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