ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5993G>A (p.Arg1998His) (rs143624066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756881 SCV000884845 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
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.

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