ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)

dbSNP: rs1244074570
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625479 SCV000745531 likely pathogenic Xeroderma pigmentosum, group G 2017-02-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625479 SCV000745992 pathogenic Xeroderma pigmentosum, group G 2016-06-10 no assertion criteria provided clinical testing

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