ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1572G>A (p.Pro524=)

gnomAD frequency: 0.00001  dbSNP: rs776326992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257086 SCV002532660 likely benign Hereditary cancer-predisposing syndrome 2021-10-14 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003408187 SCV004135144 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ERCC5: BP4, BP7

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