ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)

dbSNP: rs1554816196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674743 SCV000800134 uncertain significance Usher syndrome type 1F 2018-05-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692070 SCV005190751 uncertain significance not provided criteria provided, single submitter not provided

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