Submissions for variant NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)

gnomAD frequency: 0.01046  dbSNP: rs17843865

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177116	SCV000228943	benign	not specified	2015-05-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224255	SCV000281520	likely benign	not provided	2015-09-04	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085910	SCV000652392	benign	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000224255	SCV001885840	benign	not provided	2020-03-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24446047, 32593192, 27884173, 15955093, 25360671)
Genome-Nilou Lab	RCV003338448	SCV004050362	likely benign	Aicardi-Goutieres syndrome 6	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224255	SCV004124872	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ADAR: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000224255	SCV005262230	likely benign	not provided		criteria provided, single submitter	not provided