ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1005C>A (p.Ile335=)

dbSNP: rs2126629821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253048 SCV002523141 uncertain significance See cases 2021-01-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003607430 SCV004429233 likely benign Methylmalonic aciduria, cblA type 2023-08-29 criteria provided, single submitter clinical testing

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