ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)

gnomAD frequency: 0.00010  dbSNP: rs140893140
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 RCV000930799 SCV001076456 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273394 SCV001456428 uncertain significance Usher syndrome type 1F 2020-02-13 no assertion criteria provided clinical testing

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