ClinVar Miner

Submissions for variant NM_018238.3(AGK):c.-75G>C

gnomAD frequency: 0.00013  dbSNP: rs560194759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376499 SCV000467018 uncertain significance Developmental cataract 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284427 SCV000467019 uncertain significance Sengers syndrome 2016-06-14 criteria provided, single submitter clinical testing

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