ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2244C>T (p.Arg748=)

gnomAD frequency: 0.00004  dbSNP: rs745415974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463167 SCV000561861 benign Perlman syndrome 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960110 SCV004777391 likely benign DIS3L2-related disorder 2022-04-25 no assertion criteria provided 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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