ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1338G>A (p.Ala446=) (rs373962057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456693 SCV000555942 likely benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619420 SCV000738482 likely benign Cardiovascular phenotype 2016-06-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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