ClinVar Miner

Submissions for variant NM_000791.4(DHFR):c.458A>T (p.Asp153Val)

dbSNP: rs121913223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022525 SCV000043814 pathogenic Constitutional megaloblastic anemia with severe neurologic disease 2011-02-11 no assertion criteria provided literature only
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm RCV000022525 SCV000148827 pathogenic Constitutional megaloblastic anemia with severe neurologic disease no assertion criteria provided not provided Converted during submission to Pathogenic.

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