Submissions for variant NM_000527.5(LDLR):c.694+8_694+18del

dbSNP: rs777512182

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000775602	SCV000909966	likely benign	Familial hypercholesterolemia	2017-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000775602	SCV002448032	likely benign	Familial hypercholesterolemia	2023-08-11	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004001452	SCV004842036	likely benign	Hypercholesterolemia, familial, 1	2023-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004027288	SCV004897974	uncertain significance	Cardiovascular phenotype	2023-11-28	criteria provided, single submitter	clinical testing	The c.694+8_694+18del11 alteration is located in Intron 4 (E) of the LDLR gene. This alteration consists of a deletion of 11 nucleotides at nucleotide position c.6948 Intron 4 (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001700460	SCV001918278	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700460	SCV001970208	uncertain significance	not provided		no assertion criteria provided	clinical testing