ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=)

gnomAD frequency: 0.00003  dbSNP: rs369778265
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
Athena Diagnostics RCV000517709 SCV000613803 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Invitae RCV003558437 SCV004279790 likely benign not provided 2023-08-29 criteria provided, single submitter clinical testing

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