Submissions for variant NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro)

gnomAD frequency: 0.00757  dbSNP: rs3734676

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127444	SCV000171009	benign	not specified	2013-12-31	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.
PreventionGenetics, part of Exact Sciences	RCV000127444	SCV000313521	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000677023	SCV002387854	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294042	SCV002587490	benign	Kidney disorder	2021-06-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000677023	SCV000802856	benign	not provided	2017-06-14	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000677023	SCV001798445	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127444	SCV001918489	benign	not specified		no assertion criteria provided	clinical testing