ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)

dbSNP: rs1553312033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598677 SCV000710459 likely pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Counsyl RCV000675017 SCV000800444 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2018-06-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000675017 SCV002076500 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-11-23 no assertion criteria provided clinical testing

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