ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1581C>T (p.Cys527=)

gnomAD frequency: 0.00014  dbSNP: rs140331348
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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 RCV000152635 SCV000201957 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys527Cys in Exon 09 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs140331348).
GeneDx RCV000761708 SCV000725093 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761708 SCV000891891 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000761708 SCV001052381 benign not provided 2024-01-26 criteria provided, single submitter clinical testing

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