ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.5477C>T (p.Ser1826Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002947160 SCV003265376 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067062 SCV003690947 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.5477C>T (p.S1826L) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a C to T substitution at nucleotide position 5477, causing the serine (S) at amino acid position 1826 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV002947160 SCV005041702 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FAT2: BP4, BS1

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