ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.450G>A (p.Pro150=)

gnomAD frequency: 0.00003  dbSNP: rs746581775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668198 SCV000792760 likely benign Enhanced S-cone syndrome; Retinitis pigmentosa 37 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001248426 SCV001421913 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732992 SCV005361136 likely benign NR2E3-related disorder 2024-09-16 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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