ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile)

gnomAD frequency: 0.00007  dbSNP: rs1180420541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002208733 SCV002495749 uncertain significance Pancytopenia-developmental delay syndrome 2021-03-30 criteria provided, single submitter clinical testing ERCC6L2 NM_020207.4 exon 16 p.Thr897Ile (c.2690C>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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