ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met)

gnomAD frequency: 0.00004  dbSNP: rs373495718
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Birmingham Platelet Group; University of Birmingham RCV001270540 SCV001450839 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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