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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV000676650 SCV005302850 benign not provided criteria provided, single submitter not provided
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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