Submissions for variant NM_014159.7(SETD2):c.2543C>T (p.Ala848Val)

gnomAD frequency: 0.00870  dbSNP: rs75248784

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514303	SCV000610381	likely benign	not provided	2017-04-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083376	SCV000655722	benign	Luscan-Lumish syndrome	2024-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000122033	SCV001474713	benign	not specified	2019-11-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000514303	SCV001768315	likely benign	not provided	2023-07-25	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago	RCV000122033	SCV002071052	benign	not specified	2018-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001083376	SCV002553747	benign	Luscan-Lumish syndrome	2022-03-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514303	SCV005261305	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000122033	SCV000086244	not provided	not specified	2013-09-19	no assertion provided	reference population