Submissions for variant NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)

gnomAD frequency: 0.38375  dbSNP: rs25640

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179310	SCV000231540	benign	not specified	2015-01-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000179310	SCV000269165	benign	not specified	2014-10-31	criteria provided, single submitter	clinical testing	Arg131His in exon 7 of HSD17B4: This variant is not expected to have clinical si gnificance because it has been identified in 46% (3954/8596) of European America n chromosomes and 18% (776/4404) of African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs25640).
PreventionGenetics, part of Exact Sciences	RCV000179310	SCV000304079	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362861	SCV000452107	benign	Perrault syndrome 1	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000391832	SCV000452108	benign	Bifunctional peroxisomal enzyme 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000179310	SCV000728564	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676075	SCV001158876	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517001	SCV001725385	benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000391832	SCV001762860	benign	Bifunctional peroxisomal enzyme deficiency	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362861	SCV001762861	benign	Perrault syndrome 1	2021-07-10	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676075	SCV000801810	benign	not provided	2015-10-26	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000391832	SCV001457634	benign	Bifunctional peroxisomal enzyme deficiency	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179310	SCV001741765	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000179310	SCV001953418	benign	not specified		no assertion criteria provided	clinical testing