ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.3774C>T (p.Pro1258=)

gnomAD frequency: 0.00075  dbSNP: rs76418646
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
Invitae RCV002117693 SCV002403837 benign Methylcobalamin deficiency type cblG 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418382 SCV004126197 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MTR: BP4, BP7

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