ClinVar Miner

Submissions for variant NM_001983.4(ERCC1):c.*863T>C (rs3212989)

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Total submissions: 3
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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 RCV000224631 SCV000281089 pathogenic not provided 2015-10-28 criteria provided, single submitter clinical testing
Invitae RCV000224631 SCV001119339 benign not provided 2017-07-10 criteria provided, single submitter clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000991189 SCV001142493 benign Cerebrooculofacioskeletal syndrome 4 2020-01-06 no assertion criteria provided curation NM_001297590.1:c.850A>G in ghe gene CD3EAP has an allele frequency of 0.067 in African subpopulation in the gnomAD database. A total of 52 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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