ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.918+14T>C

gnomAD frequency: 0.04521  dbSNP: rs75783314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518738 SCV001727493 benign Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001709715 SCV001938276 benign not provided 2019-03-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709715 SCV005290152 benign not provided criteria provided, single submitter not provided

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