ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter)

gnomAD frequency: 0.00013  dbSNP: rs201657731
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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 RCV001312123 SCV001502577 likely pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135957 SCV003820540 likely pathogenic Platelet-type bleeding disorder 10 2022-03-10 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005235561 SCV005881451 uncertain significance Osteopetrosis 2025-03-12 criteria provided, single submitter clinical testing ACMG criteria used: PVS1. 130 allele count and 1 homozygote in gnomAD v4.1.0 (global AF 0,008%), PM2 not applicable.

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