ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.138G>C (p.Ala46=)

gnomAD frequency: 0.00126  dbSNP: rs145075817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872116 SCV001013886 benign Propionic acidemia 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001571243 SCV001795675 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805918 SCV002050905 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872116 SCV001460363 likely benign Propionic acidemia 2020-06-05 no assertion criteria provided clinical testing

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