ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.357-4G>A

gnomAD frequency: 0.07354  dbSNP: rs748225
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156147 SCV000205862 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 5.4% (469/8600) of European American chromosomes and 13.7% (606/4460) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS/; dbSNP rs748225)
PreventionGenetics, part of Exact Sciences RCV000156147 SCV000314031 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285838 SCV000415850 likely benign Hypohidrotic Ectodermal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131114 SCV001290721 benign Hypohidrotic ectodermal dysplasia 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520950 SCV001730171 benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001657890 SCV001874523 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001657890 SCV005259960 likely benign not provided criteria provided, single submitter not provided

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