ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3364C>T (p.Pro1122Ser)

gnomAD frequency: 0.00001  dbSNP: rs765714657
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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 RCV002255856 SCV002534875 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-29 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005002810 SCV005632800 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2024-06-20 criteria provided, single submitter clinical testing

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