ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)

gnomAD frequency: 0.00001  dbSNP: rs571718677
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926144 SCV001071704 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255295 SCV002531595 likely benign Xeroderma pigmentosum 2021-04-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002477309 SCV002797322 likely benign Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2022-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000926144 SCV004139754 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ERCC2: BS2
ITMI RCV000120784 SCV000084948 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000926144 SCV001797980 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000120784 SCV001965463 benign not specified no assertion criteria provided clinical testing

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