ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1024+44C>T

gnomAD frequency: 0.71201  dbSNP: rs260639
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000143981 SCV000188867 benign not provided 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000143981 SCV001851054 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657821 SCV001875915 benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657820 SCV001875916 benign Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000143981 SCV005239440 benign not provided criteria provided, single submitter not provided

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