ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.1948-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388733 SCV004100482 likely pathogenic Pancytopenia-developmental delay syndrome criteria provided, single submitter clinical testing The splice acceptor variant c.1948-1G>A in ERCC6L2 (NM_020207.7) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1948-1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant mutates a splice-acceptor sequence, potentially resulting in exon skipping and the production of abnormal proteins. For these reasons, this variant has been classified as Likely Pathogenic.

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