ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7500C>T (p.Leu2500=)

gnomAD frequency: 0.00002  dbSNP: rs576687895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980882 SCV001128842 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing

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