ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.102C>T (p.Ser34=)

gnomAD frequency: 0.00102  dbSNP: rs139778328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402665 SCV000339125 likely benign not specified 2016-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000946108 SCV001092206 benign Leber congenital amaurosis 7; Cone-rod dystrophy 2 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967748 SCV004785329 likely benign CRX-related disorder 2020-04-01 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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