ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) (rs55698015)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725973 SCV000340926 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000725973 SCV000590359 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing The T699M variant in the ERCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T699M variant is observed in 50/10400 (0.48%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The T699M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T699M as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000304579 SCV000362894 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358004 SCV000362895 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263243 SCV000362896 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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