ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)

dbSNP: rs371753672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674571 SCV000799929 uncertain significance Cobalamin C disease 2018-05-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674571 SCV001162920 likely pathogenic Cobalamin C disease criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000674571 SCV003808849 uncertain significance Cobalamin C disease 2019-12-13 criteria provided, single submitter clinical testing

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