ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.594+24T>C

gnomAD frequency: 0.01368  dbSNP: rs13336222
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 RCV001786586 SCV002028434 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001786586 SCV005215861 likely benign not provided criteria provided, single submitter not provided

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