ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)

gnomAD frequency: 0.00006  dbSNP: rs139873638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982492 SCV001130508 benign not provided 2024-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000982492 SCV001764441 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000982492 SCV005220769 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001278202 SCV001465198 likely benign Usher syndrome type 1F 2020-09-21 no assertion criteria provided clinical testing

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