Submissions for variant NM_000527.5(LDLR):c.969C>T (p.Gly323=)

gnomAD frequency: 0.00001  dbSNP: rs199622547

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237772	SCV000295117	likely benign	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV001186223	SCV001352590	likely benign	Familial hypercholesterolemia	2017-07-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374403	SCV002692565	likely benign	Cardiovascular phenotype	2022-10-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001186223	SCV004373263	likely benign	Familial hypercholesterolemia	2024-11-11	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000237772	SCV004820241	likely benign	Hypercholesterolemia, familial, 1	2023-10-23	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV001186223	SCV005441712	likely benign	Familial hypercholesterolemia	2023-02-28	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).