ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro)

gnomAD frequency: 0.00001  dbSNP: rs775963992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004783798 SCV005396407 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28041820)
OMIM RCV000505268 SCV000599445 pathogenic Platelet-type bleeding disorder 17 2019-12-27 no assertion criteria provided literature only

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