Submissions for variant NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)

gnomAD frequency: 0.05968  dbSNP: rs3827760

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174399	SCV000225691	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174399	SCV000314028	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382959	SCV000415843	benign	Hypohidrotic Ectodermal Dysplasia, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001133945	SCV001293661	benign	Hypohidrotic ectodermal dysplasia	2018-01-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523395	SCV001733091	benign	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659685	SCV001875910	benign	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659684	SCV001875912	benign	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001723544	SCV001950535	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24752358, 19804850, 21916884, 23415220, 18704500, 23793515, 18561327, 22648185, 18493316, 18065779, 26105758, 26603699, 27487801, 32906216)
Breakthrough Genomics, Breakthrough Genomics	RCV001723544	SCV005239435	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000006216	SCV000026398	association	Hair morphology 1, hair thickness	2016-08-04	no assertion criteria provided	literature only
Department of Prosthodontics, Peking University School and Hospital of Stomatology	RCV001261884	SCV001365407	pathogenic	Non-syndromic oligodontia	2020-04-27	no assertion criteria provided	clinical testing