ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)

gnomAD frequency: 0.00002  dbSNP: rs752356781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591050 SCV000704515 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591050 SCV003462090 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278199 SCV001465195 uncertain significance Usher syndrome type 1F 2020-04-16 no assertion criteria provided clinical testing

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