ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.660_669del (p.Asn220fs)

dbSNP: rs778808650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727405 SCV001962055 likely pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001780435 SCV002025112 likely pathogenic Platelet-type bleeding disorder 10 2020-02-20 criteria provided, single submitter clinical testing
GeneDx RCV001727405 SCV002319183 uncertain significance not provided 2022-03-21 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; Identified in the heterozygous state (reported as 658_667del10 due to alternate nomenclature) without a second variant identified in an individual 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: 33822386)

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