ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.568G>A (p.Val190Ile)

gnomAD frequency: 0.00009  dbSNP: rs201223793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474193 SCV001678361 likely benign Immunodeficiency, common variable, 7 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037150 SCV004851436 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.568G>A (p.V190I) alteration is located in exon 3 (coding exon 3) of the CR2 gene. This alteration results from a G to A substitution at nucleotide position 568, causing the valine (V) at amino acid position 190 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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