ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.165G>A (p.Thr55=)

gnomAD frequency: 0.00010  dbSNP: rs369883781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343048 SCV000341926 benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Invitae RCV001450797 SCV001654414 likely benign Cobalamin C disease 2023-12-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001450797 SCV004178133 likely benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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