ClinVar Miner

Submissions for variant NM_000234.3(LIG1):c.140C>T (p.Ser47Phe)

gnomAD frequency: 0.00105  dbSNP: rs41555118
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909526 SCV001054338 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502721 SCV002802794 likely benign Immunodeficiency 96 2021-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000909526 SCV005313294 benign not provided criteria provided, single submitter not provided

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