ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.840+6T>C (rs59687658)

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Total submissions: 3
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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
Invitae RCV000967663 SCV001115065 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 2019-12-31 criteria provided, single submitter clinical testing
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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