ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)

gnomAD frequency: 0.00001  dbSNP: rs768952458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563225 SCV001786129 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001827477 SCV002091606 uncertain significance Usher syndrome type 1F 2021-04-09 no assertion criteria provided clinical testing

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