ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.234T>C (p.His78=)

gnomAD frequency: 0.15394  dbSNP: rs3761936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521546 SCV001730907 benign Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692425 SCV001910096 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487400 SCV004233222 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 62% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001692425 SCV005280433 benign not provided criteria provided, single submitter not provided

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