ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)

gnomAD frequency: 0.00013  dbSNP: rs141355337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595226 SCV000708153 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595226 SCV001039650 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962721 SCV004778522 likely benign EHHADH-related disorder 2022-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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