ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)

gnomAD frequency: 0.00064  dbSNP: rs143546878
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Total submissions: 9
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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 RCV000041855 SCV000065551 benign not specified 2015-02-26 criteria provided, single submitter clinical testing p.Asn1714Asn in exon 25 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and has been reported in 1.9% (162/8634) of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs143546878).
GeneDx RCV000961110 SCV000714037 benign not provided 2018-08-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19737284, 22135276)
Labcorp Genetics (formerly Invitae), Labcorp RCV000961110 SCV001108141 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000041855 SCV001879347 benign not specified 2021-02-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450849 SCV004181839 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826594 SCV004181840 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888399 SCV004707997 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000961110 SCV005280591 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001826594 SCV002091576 benign Usher syndrome type 2A 2019-12-07 no assertion criteria provided clinical testing

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