ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10656T>C (p.Ser3552=)

dbSNP: rs727503719
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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 RCV000152582 SCV000201844 likely benign not specified 2014-07-09 criteria provided, single submitter clinical testing Ser3552Ser in exon 54 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.
Invitae RCV003688830 SCV004451911 likely benign not provided 2023-04-08 criteria provided, single submitter clinical testing

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