ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) (rs4150319)

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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 RCV000625478 SCV000745529 likely benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625478 SCV000745991 likely benign Xeroderma pigmentosum, group G 2016-04-29 no assertion criteria provided clinical testing
ITMI RCV000120868 SCV000085036 not provided not specified 2013-09-19 no assertion provided reference population

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