ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) (rs147883884)

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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 RCV000041875 SCV000065571 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 rs147883884) and the variant occurs a t an amino acid position that is poorly conserved with Thr present in most mamma ls.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756880 SCV000884844 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000756880 SCV001112092 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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