ClinVar Miner

Submissions for variant NC_000017.10:g.(?_3533479)_(3571820_?)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 RCV003113612 SCV003792851 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 1-2 of the SHPK gene. This region includes the initiator codon of the gene. This copy number gain extends 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 SHPK-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 RCV003113611 SCV003793888 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-08-21 flagged submission clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the CTNS 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 CTNS-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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