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

gnomAD frequency: 0.02153  dbSNP: rs114632254

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534755	SCV000652455	benign	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	2025-01-20	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001705378	SCV005264425	likely benign	not provided		criteria provided, single submitter	not provided