Submissions for variant NM_022336.4(EDAR):c.750C>T (p.Ser250=)

gnomAD frequency: 0.90287  dbSNP: rs260632

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150611	SCV000197902	benign	not specified	2014-01-13	criteria provided, single submitter	clinical testing	This variant is not expected to have clinical significance because it has been s een in 90% (7759/8600) of European American chromosomes and 88.5% (3898/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS/; dbSNP rs260632).
PreventionGenetics, part of Exact Sciences	RCV000150611	SCV000314032	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285005	SCV000415847	benign	Hypohidrotic Ectodermal Dysplasia, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001130391	SCV001289967	benign	Hypohidrotic ectodermal dysplasia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001520374	SCV001729449	benign	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000143987	SCV001848295	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657827	SCV001875917	benign	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657826	SCV001875918	benign	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	2021-07-30	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000143987	SCV000188873	unknown	not provided		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.