ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.493G>A (p.Val165Ile)

gnomAD frequency: 0.00001  dbSNP: rs766573917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333279 SCV001525819 uncertain significance Mitochondrial trifunctional protein deficiency 2018-12-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV003458670 SCV004183418 uncertain significance Mitochondrial trifunctional protein deficiency 2 2023-11-16 criteria provided, single submitter clinical testing

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