ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) (rs143624066)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041874 SCV000065570 benign not specified 2012-01-11 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it has been i dentified in 23/4552 (0.5%) control chromosomes from a broad, though clinically and racially unspecified population (dbSNP rs41311625) and the variant occurs at an amino acid position that is poorly conserved with His present in dog and hor se.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756881 SCV000884845 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000756881 SCV001112093 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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