Submissions for variant NM_012096.3(APPL1):c.256T>C (p.Leu86=)

gnomAD frequency: 0.00501  dbSNP: rs147166062

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886000	SCV001029482	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001553557	SCV001774450	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000886000	SCV001899256	benign	not provided	2020-05-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001553557	SCV002065517	benign	not specified	2021-03-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886000	SCV002544816	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	APPL1: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002507568	SCV002808829	likely benign	Maturity-onset diabetes of the young type 14	2021-11-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002507568	SCV004564725	benign	Maturity-onset diabetes of the young type 14	2023-08-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000886000	SCV005302042	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003930664	SCV004740698	benign	APPL1-related disorder	2019-04-25	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).