ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.610-2A>G

gnomAD frequency: 0.00001  dbSNP: rs745604189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780733 SCV002025108 likely pathogenic Platelet-type bleeding disorder 10 2020-12-03 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001780733 SCV004171900 likely pathogenic Platelet-type bleeding disorder 10 criteria provided, single submitter clinical testing
GeneDx RCV004774463 SCV005385448 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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