ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.5391-34A>C

gnomAD frequency: 0.07286  dbSNP: rs5760167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638322 SCV001849903 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788646 SCV002029647 benign Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638322 SCV005276837 benign not provided criteria provided, single submitter not provided

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