ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2547-8A>G (rs78509055)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155308 SCV000204994 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 2547-8A>G in Intron 25 of USH1C: This variant is not expected to have clinical s ignificance because it has been identified in 1.9% (72/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://; dbSNP rs78509055).
GeneDx RCV000828929 SCV000970634 likely benign not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000828929 SCV001114568 benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000828929 SCV001146583 benign not provided 2018-11-13 criteria provided, single submitter clinical testing

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