ClinVar Miner

Submissions for variant NC_000004.12:g.1395122G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004206951 SCV003708352 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.611G>A (p.R204Q) alteration is located in exon 1 (coding exon 1) of the CRIPAK gene. This alteration results from a G to A substitution at nucleotide position 611, causing the arginine (R) at amino acid position 204 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435943 SCV004147498 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CRIPAK: BP4, BS2

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