ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)

gnomAD frequency: 0.00061  dbSNP: rs148095899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238687 SCV000296872 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329237 SCV000362983 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381521 SCV000362984 likely benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289449 SCV000362985 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000873158 SCV001015098 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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