ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991741 SCV004809932 likely pathogenic Xeroderma pigmentosum, group G 2024-04-04 criteria provided, single submitter clinical testing

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