ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.1738G>C (p.Ala580Pro)

gnomAD frequency: 0.00030  dbSNP: rs34800980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571313 SCV001795758 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001571313 SCV004184844 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CEL: BS1, BS2

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