ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn)

gnomAD frequency: 0.00356  dbSNP: rs147222955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000203092 SCV000150561 benign not specified 2018-01-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203092 SCV000258068 likely benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000116598 SCV000610948 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000116598 SCV001122666 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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