Submissions for variant NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)

gnomAD frequency: 0.00638  dbSNP: rs116237011

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078812	SCV000110672	benign	not specified	2012-12-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078812	SCV000194383	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000078812	SCV000514013	benign	not specified	2015-05-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877686	SCV001020462	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000877686	SCV005252076	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000877686	SCV005876639	benign	not provided	2024-03-04	criteria provided, single submitter	clinical testing