ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)

gnomAD frequency: 0.00006  dbSNP: rs746404657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427506 SCV001630189 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001427506 SCV001982681 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing
Natera, Inc. RCV001278208 SCV001465204 uncertain significance Usher syndrome type 1F 2020-04-17 no assertion criteria provided clinical testing

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