ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)

gnomAD frequency: 0.00006  dbSNP: rs763230126
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941544 SCV001087433 likely benign not provided 2024-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826992 SCV002088588 likely benign Usher syndrome type 1F 2020-03-27 no assertion criteria provided clinical testing

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