ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) (rs121964960)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012795 SCV000793689 likely pathogenic Propionyl-CoA carboxylase deficiency 2017-08-22 criteria provided, single submitter clinical testing
GeneReviews RCV000012795 SCV000055690 pathologic Propionyl-CoA carboxylase deficiency 2012-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012795 SCV000033035 pathogenic Propionyl-CoA carboxylase deficiency 1998-08-01 no assertion criteria provided literature only

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