ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.654+3A>C

gnomAD frequency: 0.00014  dbSNP: rs199886085
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634873 SCV000756229 likely benign Propionic acidemia 2024-02-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000634873 SCV001367158 uncertain significance Propionic acidemia 2018-10-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP4,BP6.
GeneDx RCV001637106 SCV001849450 benign not provided 2019-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001637106 SCV001962528 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PCCB: PP3, BS2
PreventionGenetics, part of Exact Sciences RCV003928063 SCV004749306 likely benign PCCB-related condition 2019-06-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000634873 SCV002081480 benign Propionic acidemia 2019-12-19 no assertion criteria provided clinical testing

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