ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6765C>T (p.Asp2255=)

gnomAD frequency: 0.00004  dbSNP: rs767205760
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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 RCV000220519 SCV000271175 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing p.Asp2255Asp in exon 35 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66738 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Invitae RCV000940807 SCV001086675 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454590 SCV004181617 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454589 SCV004181618 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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