ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.171G>A (p.Val57=)

gnomAD frequency: 0.00027  dbSNP: rs201804764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697469 SCV000719251 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216279 SCV001388069 likely benign Mitochondrial trifunctional protein deficiency 2024-01-04 criteria provided, single submitter clinical testing

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