ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) (rs75698489)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155407 SCV000205094 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro1978Ser in Exon 30 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (20/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs75698489).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155407 SCV000340857 likely benign not specified 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000657074 SCV000617261 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25262649, 20507924)
Invitae RCV000657074 SCV001043557 benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000657074 SCV001146615 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155407 SCV001159100 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273045 SCV001455628 likely benign Usher syndrome, type 2A 2020-01-08 no assertion criteria provided clinical testing

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