ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.435A>G (p.Arg145=)

gnomAD frequency: 0.98352  dbSNP: rs4264746
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517918 SCV001726526 benign Pyruvate dehydrogenase E1-beta deficiency 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001517918 SCV001738531 benign Pyruvate dehydrogenase E1-beta deficiency 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517918 SCV002029529 benign Pyruvate dehydrogenase E1-beta deficiency 2021-09-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676650 SCV000802443 benign not provided 2016-02-23 no assertion criteria provided clinical testing
Natera, Inc. RCV001830474 SCV002082366 benign Pyruvate dehydrogenase phosphatase deficiency 2019-11-16 no assertion criteria provided clinical testing

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