Submissions for variant NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)

gnomAD frequency: 0.00280  dbSNP: rs62620227

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194601	SCV000248520	likely benign	not specified	2019-07-03	criteria provided, single submitter	clinical testing
Invitae	RCV000886637	SCV001030153	likely benign	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001334816	SCV001527780	uncertain significance	Ataxia with oculomotor apraxia type 3	2018-02-26	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000886637	SCV005041007	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PIK3R5: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000886637	SCV001742743	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000886637	SCV001965264	likely benign	not provided		no assertion criteria provided	clinical testing