ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)

gnomAD frequency: 0.00011  dbSNP: rs587778292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860816 SCV001000976 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001294159 SCV001482984 uncertain significance Cerebrooculofacioskeletal syndrome 3 2019-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003965012 SCV004777545 likely benign BIVM-ERCC5-related disorder 2022-05-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120840 SCV000085005 not provided not specified 2013-09-19 no assertion provided reference population

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