ClinVar Miner

Submissions for variant NM_002486.5(NCBP1):c.373G>A (p.Val125Met)

gnomAD frequency: 0.00132  dbSNP: rs143745791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Brain Center Rudolf Magnus, University Medical Center Utrecht RCV001731002 SCV001980680 uncertain significance Mycotic Aneurysm, Intracranial 2021-10-08 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004692712 SCV005195483 uncertain significance not provided criteria provided, single submitter not provided

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