ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1192+7A>G

gnomAD frequency: 0.00002  dbSNP: rs766337795
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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 RCV001819238 SCV002067176 uncertain significance not specified 2018-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074298 SCV002385443 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-11-03 criteria provided, single submitter clinical testing

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