ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1992+32A>G

gnomAD frequency: 0.85763  dbSNP: rs4253162
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250945 SCV000302369 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658156 SCV001876143 benign Cerebrooculofacioskeletal syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658154 SCV001876145 benign Cockayne syndrome type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658155 SCV001876146 benign DE SANCTIS-CACCHIONE SYNDROME 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658157 SCV001876147 benign UV-sensitive syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718123 SCV005319389 benign not provided criteria provided, single submitter not provided

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