ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.706-17_706-14del

dbSNP: rs886047068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330997 SCV000363232 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577755 SCV000363233 uncertain significance Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059555 SCV002491385 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing

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