ClinVar Miner

Submissions for variant NC_000010.11:g.(?_14935443)_(14936613_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803926 SCV000943814 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2018-10-31 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 5-6 of the DCLRE1C gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in combination with another DCLRE1C variant in an individual affected with severe combined immune deficiency (PMID: 11336668). Loss-of-function variants in DCLRE1C are known to be pathogenic (PMID: 21664875, 26123418). For these reasons, this variant has been classified as Pathogenic.

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