ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp)

gnomAD frequency: 0.00002  dbSNP: rs144046935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000477857 SCV003834945 uncertain significance Platelet-type bleeding disorder 17 2021-05-07 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477857 SCV000536924 uncertain significance Platelet-type bleeding disorder 17 2016-08-13 no assertion criteria provided research

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