ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=)

gnomAD frequency: 0.00004  dbSNP: rs191438128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522056 SCV001731517 benign not provided 2024-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506633 SCV002806401 likely benign Retinitis pigmentosa 33 2021-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940963 SCV004750110 likely benign SNRNP200-related disorder 2019-08-06 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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