ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) (rs1800124)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224428 SCV000280899 likely benign not provided 2015-08-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000116989 SCV000151110 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
ITMI RCV000116989 SCV000084972 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000228558 SCV000288843 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2017-06-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116989 SCV000310925 benign not specified criteria provided, single submitter clinical testing
Vantari Genetics RCV000210773 SCV000267036 likely benign Hereditary cancer-predisposing syndrome 2015-12-11 criteria provided, single submitter clinical testing

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