ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.480del (p.Asp161fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV004544230 SCV005042990 likely pathogenic Cerebrooculofacioskeletal syndrome 3 2024-05-06 criteria provided, single submitter clinical testing

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