ClinVar Miner

Submissions for variant NC_000012.11:g.(?_32729292)_(33049665_?)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 RCV003122386 SCV003793811 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2022-04-15 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the PKP2 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. A similar copy number variant has been observed in individual(s) with left ventricular noncompaction (LVNC) (PMID: 27066507). 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 RCV003122385 SCV003790972 uncertain significance not provided 2022-10-18 flagged submission clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the YARS2 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 YARS2-related conditions. 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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