ClinVar Miner

Submissions for variant NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile)

gnomAD frequency: 0.00120  dbSNP: rs200497324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001703406 SCV005411340 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV004897687 SCV005559839 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing The c.983C>T (p.T328I) alteration is located in exon 6 (coding exon 6) of the CFHR4 gene. This alteration results from a C to T substitution at nucleotide position 983, causing the threonine (T) at amino acid position 328 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703406 SCV001931059 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703406 SCV001957801 likely benign not provided no assertion criteria provided clinical testing

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