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
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
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

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