ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.540T>C (p.Phe180=)

gnomAD frequency: 0.00003  dbSNP: rs375818973
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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 RCV001820649 SCV002068116 likely benign not specified 2020-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077305 SCV002372644 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-10-17 criteria provided, single submitter clinical testing

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