ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)

dbSNP: rs949983423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436436 SCV001639278 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278197 SCV001465193 uncertain significance Usher syndrome type 1F 2020-11-04 no assertion criteria provided clinical testing

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