ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.609C>T (p.Asp203=)

gnomAD frequency: 0.00004  dbSNP: rs767725492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865196 SCV001006128 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501241 SCV002805636 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275044 SCV001459798 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004540186 SCV004762638 likely benign CEP290-related disorder 2021-04-15 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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