ClinVar Miner

Submissions for variant NM_002910.6(RENBP):c.29A>G (p.Asp10Gly)

gnomAD frequency: 0.00154  dbSNP: rs138548063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001703016 SCV003544049 uncertain significance not specified 2024-06-18 criteria provided, single submitter clinical testing The c.29A>G (p.D10G) alteration is located in exon 2 (coding exon 2) of the RENBP gene. This alteration results from a A to G substitution at nucleotide position 29, causing the aspartic acid (D) at amino acid position 10 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572848 SCV001797854 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703016 SCV001929014 benign not specified no assertion criteria provided clinical testing

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