ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)

dbSNP: rs1553248832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669737 SCV000794516 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-09-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568530 SCV005055786 likely pathogenic Retinitis pigmentosa 39 2023-11-05 criteria provided, single submitter clinical testing

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