ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.29G>A (p.Ser10Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004574765 SCV005055366 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004953682 SCV005489539 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.29G>A (p.S10N) alteration is located in exon 3 (coding exon 1) of the RHBDF2 gene. This alteration results from a G to A substitution at nucleotide position 29, causing the serine (S) at amino acid position 10 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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