ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1263-8T>G

gnomAD frequency: 0.00097  dbSNP: rs182460499
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653146 SCV000775022 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816643 SCV002067810 likely benign not specified 2020-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702828 SCV004141183 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PARN: BP4
Breakthrough Genomics, Breakthrough Genomics RCV001702828 SCV005217492 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702828 SCV001928870 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702828 SCV001976229 likely benign not provided no assertion criteria provided clinical testing

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