ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.364+8G>A

gnomAD frequency: 0.00024  dbSNP: rs200029287
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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 RCV000904851 SCV001049398 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950638 SCV004764006 likely benign DMXL2-related disorder 2019-11-26 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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