ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1464C>T (p.Pro488=)

gnomAD frequency: 0.00050  dbSNP: rs61748886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914383 SCV001059557 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818851 SCV002065642 likely benign not specified 2021-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413723 SCV004141181 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PARN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004551807 SCV004743488 likely benign PARN-related disorder 2019-05-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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