ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu)

dbSNP: rs1570562309
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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 Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002705 SCV001156409 pathogenic Achromatopsia 4 2019-02-01 criteria provided, single submitter clinical testing

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