ClinVar Miner

Submissions for variant NM_001289.6(CLIC2):c.641G>A (p.Arg214His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436906 SCV004166023 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CLIC2: BS2
Ambry Genetics RCV004614438 SCV005107939 uncertain significance not specified 2024-06-13 criteria provided, single submitter clinical testing The c.641G>A (p.R214H) alteration is located in exon 6 (coding exon 6) of the CLIC2 gene. This alteration results from a G to A substitution at nucleotide position 641, causing the arginine (R) at amino acid position 214 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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