ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.825A>G (p.Leu275=)

gnomAD frequency: 0.00004  dbSNP: rs376560248
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877311 SCV001020030 likely benign Propionic acidemia 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877311 SCV001463912 uncertain significance Propionic acidemia 2020-02-13 no assertion criteria provided clinical testing

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