Submissions for variant NM_000384.3(APOB):c.2817-19T>G

gnomAD frequency: 0.00025  dbSNP: rs72653069

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429052	SCV000533341	likely benign	not specified	2017-09-14	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	RCV002059993	SCV002401434	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2025-01-31	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV004584713	SCV005074066	benign	Familial hypercholesterolemia	2022-08-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001703166	SCV005262640	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000429052	SCV001923473	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703166	SCV001931203	likely benign	not provided		no assertion criteria provided	clinical testing