ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)

dbSNP: rs891954464
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662022 SCV000784354 likely pathogenic Mitochondrial trifunctional protein deficiency 2018-08-07 criteria provided, single submitter clinical testing

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