ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)

gnomAD frequency: 0.00001  dbSNP: rs771933147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001255911 SCV001432516 likely pathogenic Achromatopsia 7 no assertion criteria provided research

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