ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1782C>T (p.Thr594=)

gnomAD frequency: 0.00107  dbSNP: rs187555579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972182 SCV001119877 likely 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
Genetic Services Laboratory, University of Chicago RCV001819122 SCV002071551 likely benign not specified 2021-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424508 SCV004141179 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PARN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003424508 SCV005217490 likely benign not provided criteria provided, single submitter not provided

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