ClinVar Miner

Submissions for variant NC_000016.9:g.(?_14704491)_(14704676_?)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 RCV004582767 SCV005062357 pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-08-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the PARN gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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