ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) (rs201025783)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000641156 SCV000789094 uncertain significance Methylmalonic acidemia with homocystinuria 2017-01-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178303 SCV000230359 uncertain significance not provided 2015-01-26 criteria provided, single submitter clinical testing
Invitae RCV000641156 SCV000762783 benign Methylmalonic acidemia with homocystinuria 2018-01-05 criteria provided, single submitter clinical testing

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