ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.453A>T (p.Ser151=)

gnomAD frequency: 0.00002  dbSNP: rs911902351
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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 RCV001410048 SCV001612089 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2018-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819156 SCV002067735 likely benign not specified 2018-12-28 criteria provided, single submitter clinical testing

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