ClinVar Miner

Submissions for variant NM_032793.5(MFSD2A):c.229-25_229-23del

dbSNP: rs1570238098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Department, Tarbiat Modares University RCV001003424 SCV000965673 pathogenic Cryptorchidism; Fetal growth restriction; Febrile seizure (within the age range of 3 months to 6 years); Functional abnormality of male internal genitalia; Microcephaly; Intellectual disability; Delayed gross motor development; Hyperammonemia no assertion criteria provided case-control

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