ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.701del (p.Leu234fs)

dbSNP: rs767339897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665427 SCV000789548 uncertain significance Cobalamin C disease 2017-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665427 SCV002776171 uncertain significance Cobalamin C disease 2022-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665427 SCV004178227 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665427 SCV004193174 uncertain significance Cobalamin C disease 2024-01-08 criteria provided, single submitter clinical testing

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