Submissions for variant NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)

gnomAD frequency: 0.00282  dbSNP: rs151283330

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000425299	SCV000511294	uncertain significance	not provided	2016-06-16	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000486312	SCV000568094	benign	not specified	2018-02-22	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	RCV000425299	SCV001022668	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000425299	SCV004158634	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ERMARD: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000425299	SCV002035670	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000425299	SCV002038208	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972565	SCV004789142	benign	ERMARD-related disorder	2019-08-07	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).