ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.1226G>A (p.Arg409His)

gnomAD frequency: 0.01247  dbSNP: rs4987068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521624 SCV001730998 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521624 SCV005313286 benign not provided criteria provided, single submitter not provided

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