ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.4907G>T (p.Gly1636Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002578977 SCV003491454 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073424 SCV003706354 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.4907G>T (p.G1636V) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a G to T substitution at nucleotide position 4907, causing the glycine (G) at amino acid position 1636 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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