ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.389-8G>A

gnomAD frequency: 0.00019  dbSNP: rs200322751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501766 SCV000596228 likely benign not specified 2021-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000917956 SCV001063250 likely benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424062 SCV004141189 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PARN: BP4
Breakthrough Genomics, Breakthrough Genomics RCV003424062 SCV005217496 likely benign not provided criteria provided, single submitter not provided

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