ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1988G>A (p.Arg663His)

gnomAD frequency: 0.00002  dbSNP: rs780042764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463129 SCV001667064 likely benign Propionic acidemia 2024-01-24 criteria provided, single submitter clinical testing

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