ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)

dbSNP: rs1556619324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626738 SCV000747441 uncertain significance Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy 2017-01-01 criteria provided, single submitter clinical testing

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