ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.1933-4C>T

gnomAD frequency: 0.00008  dbSNP: rs546690497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732969 SCV001982847 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001732969 SCV002398338 benign not provided 2024-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551993 SCV004722629 likely benign VARS2-related disorder 2019-08-09 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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