ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1406-9C>T

gnomAD frequency: 0.00019  dbSNP: rs530099133
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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 RCV000547734 SCV000656463 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151103 SCV003839808 likely benign not specified 2022-06-06 no assertion criteria provided clinical testing

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