ClinVar Miner

Submissions for variant NC_000021.8:g.(?_33974153)_(34100371_?)dup

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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 RCV003105940 SCV003792530 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-10-25 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the SYNJ1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000545617 SCV000623940 uncertain significance not provided 2019-12-12 flagged submission clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the C21orf59 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with C21orf59-related disease. Experimental studies are not available for this variant, and the functional significance of a copy number gain of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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