ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) (rs61731363)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155383 SCV000205070 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile812Thr in Exon 19 of PCDH15: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (26/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61731363).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155383 SCV000226971 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513885 SCV000610806 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Counsyl RCV000664808 SCV000788823 likely benign Usher syndrome, type 1F 2017-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513885 SCV000885888 benign not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000513885 SCV001109075 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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