ClinVar Miner

Submissions for variant NC_000019.9:g.(?_16593553)_(16606960_?)dup

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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 RCV000708388 SCV000837498 uncertain significance Hypertrophic cardiomyopathy 19 2018-05-22 criteria provided, single submitter clinical testing This variant is a copy number gain of the genomic region encompassing exons 1-5 and the first 42 nucleotides of exon 6 of the CALR3 gene (c.-20-?_722dup).  The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to exon 6 of the CALR3 gene. 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 CALR3-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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CALR3 cause disease.

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