ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp)

dbSNP: rs1555887829
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581358 SCV000692258 uncertain significance Arterial tortuosity syndrome 2017-05-24 no assertion criteria provided clinical testing present with a known heterozygous pathogenic variant, phase not determined. Clinical phenotype specific for areterial tortuosity

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