ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.5412C>T (p.Ile1804=)

gnomAD frequency: 0.00001  dbSNP: rs142524062
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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 RCV002201394 SCV002488673 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889098 SCV004705407 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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