ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.840del (p.Gly281fs)

gnomAD frequency: 0.00002  dbSNP: rs757384010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670097 SCV000794913 uncertain significance Cobalamin C disease 2017-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670097 SCV002816454 uncertain significance Cobalamin C disease 2022-04-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670097 SCV004178239 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing

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