ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)

dbSNP: rs769522583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754786 SCV000882668 likely pathogenic Chromosome 1p32-p31 deletion syndrome 2018-09-13 no assertion criteria provided clinical testing

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