ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1319-2_1319del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005013800 SCV005642664 likely pathogenic Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-04 criteria provided, single submitter clinical testing

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