Submissions for variant NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)

gnomAD frequency: 0.00019  dbSNP: rs369449821

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729345	SCV000856997	uncertain significance	not provided	2017-09-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083920	SCV001036411	likely benign	Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000729345	SCV005327286	likely benign	not provided	2019-04-01	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV004985101	SCV005602025	likely benign	Inborn genetic diseases	2024-11-09	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.
Natera, Inc.	RCV001274461	SCV001458666	likely benign	Bifunctional peroxisomal enzyme deficiency	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535821	SCV004733931	likely benign	HSD17B4-related disorder	2019-05-20	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).