ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.1638C>T (p.Asp546=)

gnomAD frequency: 0.00006  dbSNP: rs775532734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231470 SCV000291494 likely benign Perlman syndrome 2023-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967667 SCV004776866 likely benign DIS3L2-related condition 2020-05-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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