Submissions for variant NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)

gnomAD frequency: 0.00253  dbSNP: rs150392503

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123777	SCV000167120	benign	not specified	2013-12-09	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.
Athena Diagnostics Inc	RCV000123777	SCV000612464	benign	not specified	2016-10-18	criteria provided, single submitter	clinical testing
Invitae	RCV000536946	SCV000640004	benign	Syndromic X-linked intellectual disability Hedera type	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000123777	SCV000705393	benign	not specified	2017-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000721048	SCV000851933	likely benign	History of neurodevelopmental disorder	2012-10-04	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701758	SCV001932027	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701758	SCV001967442	likely benign	not provided		no assertion criteria provided	clinical testing