ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.8029-123T>C

gnomAD frequency: 0.78821  dbSNP: rs2270747
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 RCV001681133 SCV001896273 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001681133 SCV005245644 benign not provided criteria provided, single submitter not provided

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