ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.452+65C>A

gnomAD frequency: 0.03131  dbSNP: rs79970955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545745 SCV001765133 likely benign not provided 2018-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545745 SCV005216224 likely benign not provided criteria provided, single submitter not provided

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