ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*933G>A

gnomAD frequency: 0.07801  dbSNP: rs3750751
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355050 SCV000362683 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398074 SCV000362684 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301242 SCV000362685 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001660582 SCV001881720 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660582 SCV005319370 benign not provided criteria provided, single submitter not provided

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