ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) (rs1244074570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625479 SCV000745531 likely pathogenic Xeroderma pigmentosum, group G 2017-02-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625479 SCV000745992 pathogenic Xeroderma pigmentosum, group G 2016-06-10 no assertion criteria provided clinical testing

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