ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) (rs143945573)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514291 SCV000610944 likely benign not provided 2017-04-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514291 SCV000841179 benign not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729024 SCV000856658 benign not specified 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV000514291 SCV001101772 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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