Submissions for variant NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)

gnomAD frequency: 0.00001  dbSNP: rs546653967

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728776	SCV000856390	uncertain significance	not provided	2017-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000728776	SCV000968899	likely benign	not provided	2018-05-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001458298	SCV001662117	likely benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003353008	SCV004063480	likely benign	Inborn genetic diseases	2023-07-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV000728776	SCV004235533	uncertain significance	not provided	2023-11-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540039	SCV004790586	likely benign	HSD17B4-related disorder	2023-04-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).