ClinVar Miner

Submissions for variant NM_012398.3(PIP5K1C):c.468+20C>T

gnomAD frequency: 0.55166  dbSNP: rs3826944
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
GeneDx RCV001718242 SCV001943718 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788828 SCV002029942 benign Lethal congenital contracture syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001718242 SCV005307280 benign not provided criteria provided, single submitter not provided

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