ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.232-20A>G

gnomAD frequency: 0.00009  dbSNP: rs376850891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160415 SCV002430811 likely benign Propionic acidemia 2024-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002160415 SCV002809444 likely benign Propionic acidemia 2021-10-28 criteria provided, single submitter clinical testing

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