ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.955del (p.Ile319fs)

dbSNP: rs1557917535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000761412 SCV000891396 pathogenic Achromatopsia 4 2018-06-12 no assertion criteria provided research

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