ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.32T>G (p.Val11Gly)

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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 RCV002879634 SCV003636047 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.32T>G (p.V11G) alteration is located in exon 3 (coding exon 1) of the RHBDF2 gene. This alteration results from a T to G substitution at nucleotide position 32, causing the valine (V) at amino acid position 11 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003466005 SCV004209076 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2024-03-15 criteria provided, single submitter clinical testing

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