ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.720C>T (p.Asp240=)

dbSNP: rs1569418673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735220 SCV000863428 uncertain significance AIFM1-related hypomyelination with spondylometaphyseal dysplasia 2018-09-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000856717 SCV001521363 pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type 2020-06-01 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002370001 SCV002673864 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
OMIM RCV000856717 SCV000999261 pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type 2019-11-27 no assertion criteria provided literature only

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