ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)

dbSNP: rs796065053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000190372 SCV000246109 pathogenic Achromatopsia 7 2015-06-17 criteria provided, single submitter research
OMIM RCV000190372 SCV000243938 pathogenic Achromatopsia 7 2015-07-01 no assertion criteria provided literature only
Lin Lab, Stanford University RCV004668840 SCV004244344 pathogenic Bilateral sensorineural hearing impairment no assertion criteria provided clinical testing

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