ClinVar Miner

Submissions for variant NC_000014.9:g.(?_23387519)_(23415842_?)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 RCV001031126 SCV001194432 uncertain significance Hypertrophic cardiomyopathy 2019-12-06 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 35-40 of the MYH7 gene. The 5' boundary is likely confined to intron 34. 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 MYH7-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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 RCV001345562 SCV001539689 uncertain significance Hypertrophic cardiomyopathy 14 2019-10-08 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 1-33 of the MYH6 gene, which includes the initiator codon. 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 intron 33 of the MYH6 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 MYH6-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.

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