ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) (rs150784450)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176122 SCV000227724 uncertain significance not provided 2015-02-12 criteria provided, single submitter clinical testing
Invitae RCV000176122 SCV001079955 likely benign not provided 2020-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274796 SCV001459223 likely benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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