ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.459G>C (p.Ala153=)

dbSNP: rs960463679
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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 RCV003117714 SCV003784083 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2022-08-15 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001034578 SCV001197943 uncertain significance Pulmonary fibrosis; Familial Interstitial Pneumonia no assertion criteria provided research

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