ClinVar Miner

Submissions for variant NM_025194.3(ITPKC):c.1155+9G>C

gnomAD frequency: 0.10089  dbSNP: rs28493229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV004558236 SCV000024672 uncertain significance Reclassified - variant of unknown significance 2010-03-15 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974794 SCV004798364 benign ITPKC-related disorder 2019-11-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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