ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.840+6T>C

gnomAD frequency: 0.00184  dbSNP: rs59687658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502734 SCV000596226 benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967663 SCV001115065 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
CeGaT Center for Human Genetics Tuebingen RCV003419865 SCV004141186 benign not provided 2022-12-01 criteria provided, single submitter clinical testing PARN: BS1, BS2
University of Washington Center for Mendelian Genomics, University of Washington RCV001034579 SCV001197944 uncertain significance Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

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