ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) (rs146344855)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000625481 SCV000382119 likely benign Xeroderma pigmentosum, group G 2017-05-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625481 SCV000745533 uncertain significance Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763871 SCV000894806 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000897333 SCV001041474 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625481 SCV000745994 uncertain significance Xeroderma pigmentosum, group G 2015-11-08 no assertion criteria provided clinical testing

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