ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.754-17dup

dbSNP: rs750770186
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001514343 SCV001722169 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826365 SCV002077395 likely benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-10-21 no assertion criteria provided clinical testing

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