ClinVar Miner

Submissions for variant NM_015721.3(GEMIN4):c.1580A>G (p.Asn527Ser)

gnomAD frequency: 0.00006  dbSNP: rs528143072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262971 SCV001441036 uncertain significance Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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