ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.637+102A>G

gnomAD frequency: 0.14245  dbSNP: rs539158
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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 RCV001533446 SCV001750047 likely benign Propionic acidemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001713108 SCV001944761 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713108 SCV005217655 likely benign not provided criteria provided, single submitter not provided

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