ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.777G>A (p.Lys259=)

gnomAD frequency: 0.00003  dbSNP: rs142071869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983540 SCV001131564 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271664 SCV001452967 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-05-02 no assertion criteria provided clinical testing

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