ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.1410T>C (p.Asp470=) (rs1137070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078414 SCV000110260 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715341 SCV000846170 benign History of neurodevelopmental disorder 2015-03-22 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001513026 SCV001720558 benign Brunner syndrome 2020-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078414 SCV000151818 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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