ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) (rs34217273)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116455 SCV000167121 benign not specified 2013-04-03 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 RCV001082746 SCV000640006 benign Mental retardation, X-linked, syndromic, Hedera type 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720952 SCV000851836 benign History of neurodevelopmental disorder 2014-05-12 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
Athena Diagnostics Inc RCV000527978 SCV001143143 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116455 SCV000150381 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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