ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4252-36CTTT[7]

dbSNP: rs372388546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307584 SCV000354109 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362323 SCV000354110 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001426138 SCV001628785 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001426138 SCV001793318 likely benign not provided 2022-05-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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