ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)

gnomAD frequency: 0.00002  dbSNP: rs752231055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003654416 SCV000604610 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834642 SCV002083187 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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