ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu)

gnomAD frequency: 0.00004  dbSNP: rs756654862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237619 SCV002011003 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464132 SCV004206752 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2024-01-24 criteria provided, single submitter clinical testing

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