ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.360G>A (p.Glu120=)

gnomAD frequency: 0.00172  dbSNP: rs141465868
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954072 SCV001100680 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954072 SCV001334613 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ATF6: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954072 SCV005258007 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699475 SCV001918621 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954072 SCV001971233 likely benign not provided no assertion criteria provided clinical testing

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