ClinVar Miner

Submissions for variant NC_000001.10:g.(?_93297672)_(93307422_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386821 SCV001587177 pathogenic Diamond-Blackfan anemia 2021-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (PMID: 22689679). A gross deletion of the genomic region encompassing the full coding sequence of the RPL5 gene has been identified. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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