ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.715A>G (p.Thr239Ala)

gnomAD frequency: 0.00387  dbSNP: rs141611945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948569 SCV001094784 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000948569 SCV005285808 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700515 SCV001918334 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000948569 SCV001964823 likely benign not provided no assertion criteria provided clinical testing

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