ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.178-10C>T

gnomAD frequency: 0.00001  dbSNP: rs1328915368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819330 SCV002069507 uncertain significance not specified 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869684 SCV002163561 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-10-13 criteria provided, single submitter clinical testing

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