ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)

gnomAD frequency: 0.00006  dbSNP: rs572643730
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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 RCV001423463 SCV001626044 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831476 SCV002079482 likely benign Usher syndrome type 1F 2021-10-04 no assertion criteria provided clinical testing

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