ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2382+33T>C

gnomAD frequency: 0.10128  dbSNP: rs3750749
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613875 SCV001835558 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658321 SCV001876139 benign Cerebrooculofacioskeletal syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658319 SCV001876140 benign Cockayne syndrome type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658320 SCV001876141 benign DE SANCTIS-CACCHIONE SYNDROME 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658322 SCV001876142 benign UV-sensitive syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613875 SCV005319385 benign not provided criteria provided, single submitter not provided

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