ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1422T>C (p.Leu474=)

gnomAD frequency: 0.00001  dbSNP: rs908750016
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 RCV000944291 SCV001090257 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276133 SCV001461984 uncertain significance Achromatopsia 2020-03-10 no assertion criteria provided clinical testing

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