ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=)

gnomAD frequency: 0.00001  dbSNP: rs1428606912
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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 RCV002141345 SCV002462637 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889086 SCV004705413 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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