ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)

gnomAD frequency: 0.00010  dbSNP: rs371477071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470713 SCV000561828 likely benign Perlman syndrome 2025-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000470713 SCV001297597 uncertain significance Perlman syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237878 SCV002009765 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000470713 SCV002532387 uncertain significance Perlman syndrome 2021-10-07 criteria provided, single submitter curation

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