ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.434C>T (p.Pro145Leu) (rs121964963)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625555 SCV000746051 pathogenic Homocystinuria due to CBS deficiency 2017-09-18 no assertion criteria provided clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625555 SCV000930439 likely pathogenic Homocystinuria due to CBS deficiency 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000000139 SCV000020282 pathogenic Homocystinuria, pyridoxine-responsive 1993-06-01 no assertion criteria provided literature only

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