ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)

dbSNP: rs1269441158
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Total submissions: 4
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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 RCV000825262 SCV000966552 likely benign not specified 2019-02-27 criteria provided, single submitter clinical testing The p.Leu2398Leu 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. ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536043 SCV002936982 likely benign not provided 2023-06-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453739 SCV004183288 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453738 SCV004183289 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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