ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1242C>T (p.Leu414=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002581811 SCV003487856 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-07-17 criteria provided, single submitter clinical testing

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