ClinVar Miner

Submissions for variant MTHFR, 1081C-T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003387436 SCV000023867 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2000-04-24 no assertion criteria provided literature only

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