ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)

gnomAD frequency: 0.00121  dbSNP: rs187563594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469292 SCV000561842 benign Perlman syndrome 2024-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000469292 SCV001483104 uncertain significance Perlman syndrome 2020-09-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV000469292 SCV002532431 likely benign Perlman syndrome 2021-10-27 criteria provided, single submitter curation

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