ClinVar Miner

Submissions for variant NC_000016.9:g.(?_14711427)_(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 RCV004582768 SCV005062358 pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-12-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-6 of the PARN gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PARN are known to be pathogenic (PMID: 9736620, 25848748, 26810774). This variant has not been reported in the literature in individuals affected with PARN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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