ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)

gnomAD frequency: 0.02153  dbSNP: rs114632254
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252874 SCV000316114 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705378 SCV000603418 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Invitae RCV000534755 SCV000652455 benign Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001705378 SCV000726485 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 31796081, 23991204, 21626677, 27665865, 29705498)
Illumina Laboratory Services, Illumina RCV001102398 SCV001259068 likely benign Hypohidrotic ectodermal dysplasia 2018-03-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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