ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)

gnomAD frequency: 0.00002  dbSNP: rs778162193
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Total submissions: 5
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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 RCV000601229 SCV000731698 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Ser4700Ser in exon 64 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/30782 South A sian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org/; dbSNP rs778162193).
Invitae RCV000930244 SCV001075892 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451458 SCV004183103 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451457 SCV004183104 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965294 SCV004778946 likely benign USH2A-related condition 2019-09-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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