ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.825C>T (p.His275=)

gnomAD frequency: 0.00073  dbSNP: rs374114285
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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 RCV000886915 SCV001030444 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 RCV001818640 SCV002068114 likely benign not specified 2020-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702858 SCV004141187 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PARN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001702858 SCV005217493 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702858 SCV001928759 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702858 SCV001975428 likely benign not provided no assertion criteria provided clinical testing

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