ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.435G>A (p.Pro145=) (rs148782895)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078109 SCV000109947 uncertain significance not provided 2013-05-24 criteria provided, single submitter clinical testing
Invitae RCV001088690 SCV000649839 likely benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing

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