ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2842T>C (p.Phe948Leu)

gnomAD frequency: 0.00007  dbSNP: rs200001652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192983 SCV000247315 uncertain significance not specified 2015-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003549 SCV005632798 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2024-01-02 criteria provided, single submitter clinical testing

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