ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.507G>A (p.Val169=)

gnomAD frequency: 0.00719  dbSNP: rs77648519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962752 SCV001109850 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000962752 SCV005313293 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905854 SCV004724369 benign LIG1-related disorder 2023-12-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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