Submissions for variant NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)

gnomAD frequency: 0.00096  dbSNP: rs141639003

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514561	SCV000609538	likely benign	not provided	2017-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000608992	SCV000730790	benign	not specified	2017-11-15	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	RCV000514561	SCV001038312	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514561	SCV005215363	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000514561	SCV000802820	uncertain significance	not provided	2016-03-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902819	SCV004720469	benign	ATP5F1A-related disorder	2019-10-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).