ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.609C>T (p.His203=) (rs142313595)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241826 SCV000319942 likely benign Cardiovascular phenotype 2015-08-06 criteria provided, single submitter clinical testing
Invitae RCV000551991 SCV000649842 likely benign Homocystinuria due to CBS deficiency 2017-06-10 criteria provided, single submitter clinical testing

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