ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln)

gnomAD frequency: 0.00001  dbSNP: rs368683590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788346 SCV000927418 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258966 SCV003948162 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.2147G>A (p.R716Q) alteration is located in exon 11 (coding exon 11) of the CR2 gene. This alteration results from a G to A substitution at nucleotide position 2147, causing the arginine (R) at amino acid position 716 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003453627 SCV004180436 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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