ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1296G>A (p.Val432=)

gnomAD frequency: 0.00318  dbSNP: rs147336433
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 RCV000959912 SCV001106852 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489347 SCV002798401 likely benign Retinitis pigmentosa; Retinitis pigmentosa 66 2021-07-28 criteria provided, single submitter clinical testing

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