ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) (rs150791877)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625475 SCV000745526 likely benign Xeroderma pigmentosum, group G 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625475 SCV000745988 likely benign Xeroderma pigmentosum, group G 2016-04-29 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345626 SCV000382096 uncertain significance Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing

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