ClinVar Miner

Submissions for variant NM_004704.5(RRP9):c.908G>A (p.Arg303Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005267158 SCV005933860 uncertain significance not specified 2025-02-05 criteria provided, single submitter clinical testing The c.908G>A (p.R303Q) alteration is located in exon 10 (coding exon 10) of the RRP9 gene. This alteration results from a G to A substitution at nucleotide position 908, causing the arginine (R) at amino acid position 303 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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