ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.828+17_828+18insC

gnomAD frequency: 0.01356  dbSNP: rs199824990
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
Invitae RCV001516612 SCV001724912 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501793 SCV002805212 benign Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 2021-09-20 criteria provided, single submitter clinical testing

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