ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.10666A>G (p.Thr3556Ala)

gnomAD frequency: 0.00013  dbSNP: rs200708864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391830 SCV001593462 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037713 SCV003949982 uncertain significance not specified 2023-05-30 criteria provided, single submitter clinical testing The c.10666A>G (p.T3556A) alteration is located in exon 18 (coding exon 18) of the FAT2 gene. This alteration results from a A to G substitution at nucleotide position 10666, causing the threonine (T) at amino acid position 3556 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001391830 SCV004157443 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing FAT2: BP4, BS1

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