ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310323 SCV002602307 likely pathogenic Cockayne syndrome type 2 2021-12-29 criteria provided, single submitter clinical testing NM_000124.2(ERCC6):c.2796T>A(Y932*) is expected to be pathogenic in the context of ERCC6-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ERCC6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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