ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41197675)_(41209172_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807923 SCV000948003 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 19-23 of the BRCA1 gene. The 5' boundary is likely confined to intron 18. 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. A similar copy number variant has been observed in individual(s) with breast cancer (PMID: 26187060). This variant is also known as duplication of exons 20-24. 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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