ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.303+8T>A

gnomAD frequency: 0.00021  dbSNP: rs199769617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513545 SCV000609121 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001084379 SCV001121100 likely benign Propionic acidemia 2024-01-20 criteria provided, single submitter clinical testing

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