ClinVar Miner

Submissions for variant NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)

gnomAD frequency: 0.00001  dbSNP: rs201234922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329042 SCV001520340 uncertain significance ANE syndrome 2019-09-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035661 SCV003946148 uncertain significance not specified 2023-03-20 criteria provided, single submitter clinical testing The c.1745G>A (p.R582Q) alteration is located in exon 16 (coding exon 16) of the RBM28 gene. This alteration results from a G to A substitution at nucleotide position 1745, causing the arginine (R) at amino acid position 582 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Undiagnosed Diseases Network, NIH RCV001329042 SCV004242185 uncertain significance ANE syndrome 2019-09-23 no assertion criteria provided clinical testing

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