Submissions for variant NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)

gnomAD frequency: 0.00347  dbSNP: rs1803915

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078810	SCV000110670	benign	not specified	2013-10-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078810	SCV000194346	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078810	SCV000304215	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000078810	SCV000714472	benign	not specified	2017-02-16	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	RCV002055100	SCV002410801	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002055100	SCV004145588	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	PAFAH1B1: BP4, BP7, BS1, BS2