ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.27G>A (p.Met9Ile)

gnomAD frequency: 0.75593  dbSNP: rs966365
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249322 SCV000316113 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262285 SCV000355823 benign Hypohidrotic Ectodermal Dysplasia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001711743 SCV000603416 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100439 SCV001256959 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.
Invitae RCV001519825 SCV001728764 benign Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660364 SCV001875921 benign Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660365 SCV001875923 benign Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001711743 SCV001939200 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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