ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.147T>C (p.Val49=)

dbSNP: rs1553258114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719028 SCV000726389 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001719028 SCV003450205 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451433 SCV004183013 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451432 SCV004183014 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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