ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.6974A>G (p.Asn2325Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002948421 SCV003274901 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067985 SCV003715941 uncertain significance not specified 2021-12-03 criteria provided, single submitter clinical testing The c.6974A>G (p.N2325S) alteration is located in exon 9 (coding exon 9) of the FAT2 gene. This alteration results from a A to G substitution at nucleotide position 6974, causing the asparagine (N) at amino acid position 2325 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 RCV002948421 SCV004157459 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FAT2: BP4, BS1

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