ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.30C>T (p.Asn10=)

gnomAD frequency: 0.00002  dbSNP: rs774563819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002092391 SCV002323923 likely benign Leber congenital amaurosis 12 2023-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913503 SCV004736092 likely benign RD3-related disorder 2019-05-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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