ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1761C>T (p.Ser587=)

gnomAD frequency: 0.00110  dbSNP: rs148052946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970771 SCV001118370 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819109 SCV002071364 likely benign not specified 2019-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553482 SCV004788586 likely benign PARN-related disorder 2019-05-01 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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