ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)

gnomAD frequency: 0.00001  dbSNP: rs372095792
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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 RCV000979463 SCV001127407 likely benign not provided 2022-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274783 SCV001459208 likely benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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