ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.161-33G>C

gnomAD frequency: 0.44828  dbSNP: rs636048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661265 SCV001875926 benign Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661266 SCV001875927 benign Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001673227 SCV001885395 benign not provided 2021-05-11 criteria provided, single submitter clinical testing

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