ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile)

gnomAD frequency: 0.00005  dbSNP: rs758366698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476298 SCV000551614 benign Perlman syndrome 2024-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000476298 SCV003834687 uncertain significance Perlman syndrome 2023-01-19 criteria provided, single submitter clinical testing
GeneDx RCV003441881 SCV004168735 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28135719, 31785789, 28191890)

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