ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)

dbSNP: rs797045173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000191039 SCV000246113 pathogenic Achromatopsia 7 2015-06-17 criteria provided, single submitter research
OMIM RCV000191039 SCV000243936 pathogenic Achromatopsia 7 2015-07-01 no assertion criteria provided literature only

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