ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del) (rs541157165)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482254 SCV000566859 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The c.2708_2710delTGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2708_2710delTGG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2708_2710delTGG variant results in an in-frame deletion of a single Valine residue, denoted p.Val903del. This variant occurs at a position that is conserved across species. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000482254 SCV001675612 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing

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