Submissions for variant NM_001001548.3(CD36):c.1404G>A (p.Ser468=)

gnomAD frequency: 0.00055  dbSNP: rs141626483

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000906273	SCV001050901	likely benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162764	SCV001324729	uncertain significance	Platelet-type bleeding disorder 10	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences	RCV004551756	SCV004744023	likely benign	CD36-related disorder	2019-12-26	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).