ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6958-5C>T

gnomAD frequency: 0.00010  dbSNP: rs147914083
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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 RCV000041899 SCV000065595 likely benign not specified 2013-01-30 criteria provided, single submitter clinical testing 6958-5C>T in intron 36 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (5/394) of Chinese chromosome s by the 1000 Genomes Project (1000Genomes; dbSNP rs147914083).
Labcorp Genetics (formerly Invitae), Labcorp RCV000931400 SCV001077066 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445129 SCV004172086 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445128 SCV004172087 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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