ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln)

gnomAD frequency: 0.00726  dbSNP: rs28515675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429861 SCV000523105 benign not specified 2016-02-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000880136 SCV001023212 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000880136 SCV004562268 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880136 SCV005302792 benign not provided criteria provided, single submitter not provided

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