ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)

dbSNP: rs373694614
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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 RCV000220399 SCV000269947 benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Ser4619Ser in exon 64 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 identified in 0.6% (94/16510) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs373694614).
Labcorp Genetics (formerly Invitae), Labcorp RCV000915582 SCV001060795 benign not provided 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000915582 SCV001796958 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454563 SCV004183119 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454562 SCV004183120 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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