ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.199A>G (p.Met67Val)

gnomAD frequency: 0.21366  dbSNP: rs1058405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986451 SCV001135458 benign Achromatopsia 7 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001518516 SCV001727224 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986451 SCV001775028 benign Achromatopsia 7 2021-07-14 criteria provided, single submitter clinical testing

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