ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.603T>C (p.Arg201=)

dbSNP: rs398124294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081742 SCV000113677 uncertain significance not provided 2013-06-07 criteria provided, single submitter clinical testing
Counsyl RCV000664730 SCV000788737 likely benign Cobalamin C disease 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000664730 SCV001126849 likely benign Cobalamin C disease 2023-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273235 SCV001456027 likely benign Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided clinical testing

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