ClinVar Miner

Submissions for variant NC_000005.9:g.(?_1394830)_(1394893_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707982 SCV000837092 uncertain significance Classic dopamine transporter deficiency syndrome 2018-06-05 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 15 of the SLC6A3 gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it 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 with SLC6A3-related disease. 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.
Invitae RCV001319101 SCV001509828 uncertain significance Parkinsonism-dystonia, infantile 2018-05-22 criteria provided, single submitter clinical testing 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. This variant results in a copy number gain of the genomic region encompassing exon 15 of the SLC6A3 gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it 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 with SLC6A3-related disease.

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