Submissions for variant NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)

gnomAD frequency: 0.00091  dbSNP: rs3027884

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193244	SCV000247547	likely benign	not specified	2016-11-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000193244	SCV000340014	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001573815	SCV000589917	likely benign	not provided	2018-05-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000969004	SCV001116495	likely benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-11-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573815	SCV005206908	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573815	SCV001800213	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000193244	SCV001928169	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000193244	SCV001966210	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955154	SCV004775401	likely benign	HCFC1-related disorder	2024-04-01	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).