ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003010752 SCV003709087 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1699A>G (p.I567V) alteration is located in exon 10 (coding exon 10) of the CFHR5 gene. This alteration results from a A to G substitution at nucleotide position 1699, causing the isoleucine (I) at amino acid position 567 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143569 SCV003831621 uncertain significance CFHR5 deficiency 2022-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003143569 SCV004177518 uncertain significance CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790455 SCV005412747 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV005011174 SCV005634454 uncertain significance C3 glomerulonephritis 2024-02-29 criteria provided, single submitter clinical testing

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