ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.4750C>T (p.Arg1584Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004101955 SCV003569174 uncertain significance not specified 2021-06-11 criteria provided, single submitter clinical testing The c.4750C>T (p.R1584W) alteration is located in exon 8 (coding exon 8) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 4750, causing the arginine (R) at amino acid position 1584 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434611 SCV004157467 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FAT2: BP4

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