ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.378-6C>G (rs782482746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, ClinGen RCV000225484 SCV001711994 benign Rett syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the c.378-6C>G variant in MECP2 is 0.032% in Latino sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.378-6C>G variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the c.378-6C>G variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1, BP5).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225484 SCV000282490 likely benign Rett syndrome 2015-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001711619 SCV000515705 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing

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