ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) (rs3827760)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174399 SCV000225691 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174399 SCV000314028 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382959 SCV000415843 benign Hypohidrotic Ectodermal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Invitae RCV001523395 SCV001733091 benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2020-11-07 criteria provided, single submitter clinical testing
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

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