ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)

gnomAD frequency: 0.00011  dbSNP: rs565714281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945195 SCV002183756 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490282 SCV002778214 uncertain significance Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002557678 SCV003547892 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.2879C>G (p.T960S) alteration is located in exon 19 (coding exon 19) of the FN1 gene. This alteration results from a C to G substitution at nucleotide position 2879, causing the threonine (T) at amino acid position 960 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001945195 SCV005409003 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing BP4

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