ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.270T>C (p.Pro90=)

gnomAD frequency: 0.09194  dbSNP: rs2271013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510281 SCV001717282 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553924 SCV001775029 benign Achromatopsia 7 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510281 SCV005285804 benign not provided criteria provided, single submitter not provided

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