ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.970-7T>C

gnomAD frequency: 0.00001  dbSNP: rs770942394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199648 SCV002353686 likely benign Methylmalonic aciduria, cblA type 2021-04-27 criteria provided, single submitter clinical testing

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