ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.429C>G (p.Leu143=) (rs4140390)

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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 RCV000625470 SCV000745521 benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625470 SCV000745983 benign Xeroderma pigmentosum, group G 2015-07-08 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359091 SCV000382085 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing

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