ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1131C>T (p.His377=)

gnomAD frequency: 0.00010  dbSNP: rs200644588
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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 RCV000880004 SCV001023063 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424436 SCV004141184 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PARN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004550007 SCV004781881 likely benign PARN-related disorder 2020-02-14 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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