ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.162del (p.Gly55fs)

dbSNP: rs1572736047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000984779 SCV000994800 uncertain significance Aganglionic megacolon 2019-05-16 no assertion criteria provided clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261599 SCV001438877 benign Intellectual disability, autosomal recessive 47 no assertion criteria provided clinical testing

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