ClinVar Miner

Submissions for variant NC_000001.10:g.(?_989123)_(3160711_?)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 RCV002004579 SCV002230986 uncertain significance Left ventricular noncompaction 8 2022-03-08 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 has not been reported in the literature in individuals affected with PRDM16-related conditions. This sequence change is a complex rearrangement involving the PRDM16 gene. Although the exact nature of the event is unknown, it involves copy number gains and/or losses across much of the gene. The effect on the surrounding sequence is also uncertain.

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