ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9621T>C (p.Cys3207=)

dbSNP: rs727505296
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Total submissions: 2
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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 RCV000156832 SCV000206553 likely benign not specified 2014-09-16 criteria provided, single submitter clinical testing Cys3207Cys in exon 49 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764982 SCV004674172 likely benign not provided 2023-05-22 criteria provided, single submitter clinical testing

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