Submissions for variant NM_001001548.3(CD36):c.660_664del (p.Asn220fs)

dbSNP: rs768699378

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000998813	SCV001155097	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001784533	SCV002025119	likely pathogenic	Platelet-type bleeding disorder 10	2021-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000998813	SCV002587971	uncertain significance	not provided	2022-04-21	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed with a frameshift variant on the opposite allele in twin sisters with features of mild encephalitis/encephalopathy with a reversible splenial lesion (Gatto et al., 2020); Observed with additional CD36 variant(s) in individuals with negative platelet CD36 expression, but no specific clinical information or segregation studies were provided (Flesch et al., 2021); This variant is associated with the following publications: (PMID: 32346805, 33822386)
Breakthrough Genomics, Breakthrough Genomics	RCV000998813	SCV005195567	uncertain significance	not provided		criteria provided, single submitter	not provided