ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys)

gnomAD frequency: 0.02514  dbSNP: rs61560753
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001699915 SCV005281858 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699915 SCV001927029 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724412 SCV001957253 benign not specified no assertion criteria provided clinical testing

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