ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.184-1G>A

dbSNP: rs886044246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726367 SCV000344122 pathogenic not provided 2016-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000353159 SCV000792649 likely pathogenic Propionic acidemia 2017-07-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000353159 SCV004205214 likely pathogenic Propionic acidemia 2023-06-23 criteria provided, single submitter clinical testing

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