ClinVar Miner

Submissions for variant NM_004704.5(RRP9):c.23G>A (p.Arg8His)

dbSNP: rs373215221
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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 RCV004454414 SCV005016308 uncertain significance not specified 2023-12-22 criteria provided, single submitter clinical testing The c.23G>A (p.R8H) alteration is located in exon 1 (coding exon 1) of the RRP9 gene. This alteration results from a G to A substitution at nucleotide position 23, causing the arginine (R) at amino acid position 8 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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