ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)

dbSNP: rs770671117
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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 RCV001243194 SCV001416334 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835160 SCV002083675 likely benign Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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