ClinVar Miner

Submissions for variant NM_001145346.2(RBMXL3):c.2635G>A (p.Asp879Asn)

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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 RCV004064278 SCV004077463 uncertain significance not specified 2023-09-12 criteria provided, single submitter clinical testing The c.2635G>A (p.D879N) alteration is located in exon 1 (coding exon 1) of the RBMXL3 gene. This alteration results from a G to A substitution at nucleotide position 2635, causing the aspartic acid (D) at amino acid position 879 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Undiagnosed Diseases Network, NIH RCV002509907 SCV002818566 uncertain significance Kleine-Levin syndrome 2017-10-19 no assertion criteria provided clinical testing

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