ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.866G>A (p.Arg289Gln)

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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 RCV003190727 SCV003873297 uncertain significance Inborn genetic diseases 2023-01-17 criteria provided, single submitter clinical testing The c.953G>A (p.R318Q) alteration is located in exon 8 (coding exon 6) of the RHBDF2 gene. This alteration results from a G to A substitution at nucleotide position 953, causing the arginine (R) at amino acid position 318 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003466038 SCV004209078 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-06-02 criteria provided, single submitter clinical testing

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