ClinVar Miner

Submissions for variant NM_001395656.1(ROBO2):c.2615C>G (p.Ala872Gly)

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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 RCV004960237 SCV005490423 uncertain significance Inborn genetic diseases 2024-08-29 criteria provided, single submitter clinical testing The c.2603C>G (p.A868G) alteration is located in exon 17 (coding exon 17) of the ROBO2 gene. This alteration results from a C to G substitution at nucleotide position 2603, causing the alanine (A) at amino acid position 868 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038866 SCV005657729 uncertain significance Vesicoureteral reflux 2 2024-06-17 criteria provided, single submitter clinical testing

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