ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.289G>C (p.Glu97Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004660919 SCV005159712 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.289G>C (p.E97Q) alteration is located in exon 1 (coding exon 1) of the RBP3 gene. This alteration results from a G to C substitution at nucleotide position 289, causing the glutamic acid (E) at amino acid position 97 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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