ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1770C>T (p.Pro590=)

gnomAD frequency: 0.00014  dbSNP: rs767156266
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892761 SCV001036659 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890022 SCV004705446 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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