ClinVar Miner

Submissions for variant NC_000003.12:g.(?_197950962)_(197955779_?)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 RCV000532317 SCV000646866 pathogenic Diamond-Blackfan anemia 5 2017-04-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RPL35A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in RPL35A are known to be pathogenic. Deletions of the entire gene have been reported in the literature in individuals affected with Diamond-Blackfan anemia (PMID: 18535205, 22262766, 22689679). For these reasons, this variant has been classified as Pathogenic.

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