ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.720dup (p.Glu241fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470151 SCV004193199 uncertain significance Cobalamin C disease 2024-01-08 criteria provided, single submitter clinical testing

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