ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.870C>T (p.Cys290=)

gnomAD frequency: 0.00060  dbSNP: rs141174380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839910 SCV000981820 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing
Invitae RCV001082942 SCV001033077 likely benign Propionic acidemia 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082942 SCV001467082 likely benign Propionic acidemia 2020-08-27 no assertion criteria provided clinical testing

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