ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe)

gnomAD frequency: 0.00852  dbSNP: rs55752621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954619 SCV001101264 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171327 SCV001328274 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, BS1
CeGaT Center for Human Genetics Tuebingen RCV000954619 SCV004149533 benign not provided 2024-06-01 criteria provided, single submitter clinical testing EHHADH: BS1, BS2

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