ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222887 SCV000268837 benign not specified 2015-06-09 criteria provided, single submitter clinical testing c.832_833ins68 in intron 9 of CBS: This variant is not expected to have clinical significance because it has been identified in 8% (632/8000) of African chromos omes, 3.5% (551/15982) of South Asian chromosomes, and 2.1% (1306/61690) of Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org).
Invitae RCV000990351 SCV000555943 benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990351 SCV001141299 likely benign Classic homocystinuria 2019-05-28 criteria provided, single submitter clinical testing

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