ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.129G>A (p.Pro43=)

gnomAD frequency: 0.00001  dbSNP: rs779779664
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001273687 SCV001687820 likely benign Methylmalonic aciduria, cblA type 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273687 SCV001457018 uncertain significance Methylmalonic aciduria, cblA type 2020-04-16 no assertion criteria provided clinical testing

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