ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)

gnomAD frequency: 0.00016  dbSNP: rs141763734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120863 SCV000247314 uncertain significance not specified 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV001731383 SCV001982213 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001731383 SCV004559979 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001731383 SCV005192202 uncertain significance not provided criteria provided, single submitter not provided
ITMI RCV000120863 SCV000085030 not provided not specified 2013-09-19 no assertion provided reference population

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