ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys)

gnomAD frequency: 0.00027  dbSNP: rs201274165
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 RCV000902258 SCV001046673 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000902258 SCV002010219 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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