ClinVar Miner

Submissions for variant NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) (rs111033362)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514010 SCV000609846 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000039743 SCV000297035 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039743 SCV000114270 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294124 SCV000363134 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350911 SCV000363135 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039743 SCV000063432 benign not specified 2011-09-02 criteria provided, single submitter clinical testing Asn1617Ser in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.7%(32/4548)of control chromosomes. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein primarily based upon a lack of conservation across species including mammals. Of note, mouse, rat, chick, platypus and lizard has a serine at this position.
PreventionGenetics RCV000039743 SCV000315069 benign not specified criteria provided, single submitter clinical testing

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