ClinVar Miner

Submissions for variant NM_003587.5(DHX16):c.2867G>A (p.Arg956Gln)

gnomAD frequency: 0.00001  dbSNP: rs1447358889
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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 RCV002704186 SCV003735656 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.2867G>A (p.R956Q) alteration is located in exon 19 (coding exon 19) of the DHX16 gene. This alteration results from a G to A substitution at nucleotide position 2867, causing the arginine (R) at amino acid position 956 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143571 SCV003829102 uncertain significance Neuromuscular disease and ocular or auditory anomalies with or without seizures 2021-09-17 criteria provided, single submitter clinical testing

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