ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr)

gnomAD frequency: 0.00006  dbSNP: rs369432764
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436319 SCV001639159 likely benign not provided 2022-09-23 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001436319 SCV002011012 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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