ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.701-64G>T

gnomAD frequency: 0.72970  dbSNP: rs2070662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527581 SCV001738678 benign Pyruvate dehydrogenase E1-beta deficiency 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001658242 SCV001875049 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658242 SCV005302828 benign not provided criteria provided, single submitter not provided

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