ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)

dbSNP: rs373604102
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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, Mass General Brigham Personalized Medicine RCV000041889 SCV000065585 likely benign not specified 2011-09-25 criteria provided, single submitter clinical testing Ser2170Arg in exon 34 of USH2A: This variant is not expected to have clinical si gnificance because the Serine 2170 residue is poorly conserved in mammals with m ost other species having an Asparagine. Therefore, this variant is likely benign .
Eurofins Ntd Llc (ga) RCV000041889 SCV000343285 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000923504 SCV001068984 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000923504 SCV001842099 benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450876 SCV004181656 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826598 SCV004181657 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826598 SCV002090885 benign Usher syndrome type 2A 2020-08-18 no assertion criteria provided clinical testing

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