ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.327+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV004017194 SCV004847124 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-10-30 criteria provided, single submitter clinical testing

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