ClinVar Miner

Submissions for variant NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)

gnomAD frequency: 0.00004  dbSNP: rs771379232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000766132 SCV000746611 likely pathogenic Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 2019-04-30 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30031689 (subject 2).
OMIM RCV000766132 SCV000897610 pathogenic Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 2019-03-27 no assertion criteria provided literature only

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