Submissions for variant NM_005050.4(ABCD4):c.184T>C (p.Leu62=)

gnomAD frequency: 0.29779  dbSNP: rs2301345

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245945	SCV000310812	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000245945	SCV000517487	benign	not specified	2015-12-02	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.
Mendelics	RCV000989243	SCV001139485	benign	Methylmalonic acidemia with homocystinuria, type cblJ	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989243	SCV001722545	benign	Methylmalonic acidemia with homocystinuria, type cblJ	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000989243	SCV001769081	benign	Methylmalonic acidemia with homocystinuria, type cblJ	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714587	SCV005292221	benign	not provided		criteria provided, single submitter	not provided