ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) (rs781227859)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Sharon lab,Hadassah-Hebrew University Medical Center	RCV001002971	SCV001161019	likely pathogenic	Achromatopsia	2019-06-23	no assertion criteria provided	research

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