ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.1554C>T (p.Ala518=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284733 SCV002574308 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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