ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2733A>G (p.Glu911=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003414985 SCV004126192 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MTR: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005100010 SCV005795984 likely benign Methylcobalamin deficiency type cblG 2024-02-14 criteria provided, single submitter clinical testing

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