ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.789-4A>G

gnomAD frequency: 0.00022  dbSNP: rs367808564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914287 SCV001059457 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818848 SCV002068561 likely benign not specified 2021-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000914287 SCV004042362 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ERCC6L2: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000914287 SCV005222475 likely benign not provided criteria provided, single submitter not provided

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