ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.135G>A (p.Arg45=)

gnomAD frequency: 0.00005  dbSNP: rs374821619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280498 SCV000341633 uncertain significance not provided 2016-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059228 SCV002330002 likely benign Leber congenital amaurosis 12 2022-09-27 criteria provided, single submitter clinical testing

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