ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln)

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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 RCV003463532 SCV004206780 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003885349 SCV004699877 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RHBDF2: BS1

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