ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.978A>G (p.Lys326=)

gnomAD frequency: 0.00017  dbSNP: rs200678657
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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 RCV001511583 SCV001718857 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821809 SCV002066713 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing

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