ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1572A>G (p.Arg524=)

gnomAD frequency: 0.00010  dbSNP: rs370717086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974639 SCV001122473 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424510 SCV004141180 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PARN: BP4, BP7

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