ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1875G>A (p.Ser625=)

dbSNP: rs370090572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105128 SCV002397601 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553719 SCV004792392 likely benign PARN-related disorder 2019-03-11 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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