ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1311C>T (p.Ser437=)

gnomAD frequency: 0.00001  dbSNP: rs777192214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159621 SCV002331364 likely benign Methylcobalamin deficiency type cblG 2024-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950874 SCV004766409 likely benign MTR-related disorder 2019-12-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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