Submissions for variant NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)

gnomAD frequency: 0.00087  dbSNP: rs35486059

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000898183	SCV001042375	benign	not provided	2024-10-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100883	SCV001257427	uncertain significance	3 beta-Hydroxysteroid dehydrogenase deficiency	2017-04-27	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Pars Genome Lab	RCV001100883	SCV001652867	uncertain significance	3 beta-Hydroxysteroid dehydrogenase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000898183	SCV002010670	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001100883	SCV001463174	benign	3 beta-Hydroxysteroid dehydrogenase deficiency	2019-12-09	no assertion criteria provided	clinical testing