ClinVar Miner

Submissions for variant NC_000003.12:g.(?_197950958)_(197955783_?)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 RCV000802594 SCV000942431 pathogenic Diamond-Blackfan anemia 5 2018-09-16 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. Similar deletions of the entire coding sequence have been observed in individuals affected with Diamond-Blackfan anemia (PMID: 18535205, 22262766, 22689679). Loss-of-function variants in RPL35A are known to be pathogenic (PMID: 18535205, 25946618). For these reasons, this variant has been classified as Pathogenic.

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