ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14838G>T (p.Val4946=)

dbSNP: rs949583594
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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 RCV000825263 SCV000966553 likely benign not specified 2019-02-12 criteria provided, single submitter clinical testing The p.Val4946Val variant in USH2A is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. It has been identified in 0.007% (1/15382) of European chromosomes in gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001449024 SCV001652129 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453740 SCV004182868 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271913 SCV004182879 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271913 SCV001453408 likely benign Usher syndrome type 2A 2020-05-01 no assertion criteria provided clinical testing

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