ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro)

gnomAD frequency: 0.00001  dbSNP: rs554013810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820658 SCV002070226 likely benign not specified 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074344 SCV002446687 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489880 SCV002800288 likely benign Pancytopenia-developmental delay syndrome 2021-07-24 criteria provided, single submitter clinical testing

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