ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.1726-8C>T

gnomAD frequency: 0.00340  dbSNP: rs112820248
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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 RCV001515896 SCV001724074 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931088 SCV004751832 likely benign LIG1-related disorder 2023-12-04 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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