ClinVar Miner

Submissions for variant NC_000019.9:g.(?_4164480)_(4164657_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919136 SCV002183447 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the CREB3L3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with dyslipidemia (PMID: 32041611). 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.

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