ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4282-57A>G

gnomAD frequency: 0.42929  dbSNP: rs3749382
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 RCV001717668 SCV001945585 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717668 SCV005245601 benign not provided criteria provided, single submitter not provided

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