ClinVar Miner

Submissions for variant NC_000016.9:g.(?_14530574)_(14724045_?)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 RCV004582765 SCV005062355 pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-03-26 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 PARN-related conditions (PMID: 26482878). A gross deletion of the genomic region encompassing the full coding sequence of the PARN gene has been identified. Loss-of-function variants in PARN are known to be pathogenic (PMID: 9736620, 25848748, 26810774). 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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