ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1320G>A (p.Leu440=)

gnomAD frequency: 0.00007  dbSNP: rs376352894
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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 RCV001404657 SCV001606564 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2023-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426077 SCV004141182 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PARN: BP4, BP7

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