ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.1896A>G (p.Ser632=)

gnomAD frequency: 0.63750  dbSNP: rs9482
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517526 SCV001726038 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553926 SCV001775032 benign Achromatopsia 7 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517526 SCV005285818 benign not provided criteria provided, single submitter not provided

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