ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.2100+13_2100+15del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594086 SCV002958554 likely benign not provided 2022-09-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151413 SCV003839485 uncertain significance not specified 2022-07-14 no assertion criteria provided clinical testing DNA sequence analysis of the ERCC6L2 gene demonstrated a deletion in intron 14, c.2133+13_2133+15del. This change does not appear to have been previously described in individuals with ERCC6L2-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.008% in the European subpopulation (dbSNP rs748233675). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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