ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.9434A>G (p.Asn3145Ser)

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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 RCV004232672 SCV003744451 uncertain significance not specified 2022-01-31 criteria provided, single submitter clinical testing The c.9434A>G (p.N3145S) alteration is located in exon 13 (coding exon 13) of the FAT2 gene. This alteration results from a A to G substitution at nucleotide position 9434, causing the asparagine (N) at amino acid position 3145 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434680 SCV004157448 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing FAT2: BP4

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