Submissions for variant NM_014317.5(PDSS1):c.163-5del

dbSNP: rs34296355

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000199022	SCV000252083	benign	not specified	2012-04-17	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.
Illumina Laboratory Services, Illumina	RCV000302465	SCV000361998	likely benign	Coenzyme Q10 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676292	SCV001721588	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788066	SCV002029536	benign	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676292	SCV000802049	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000199022	SCV001922594	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000199022	SCV001962824	benign	not specified		no assertion criteria provided	clinical testing