ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.627T>C (p.Thr209=)

gnomAD frequency: 0.00001  dbSNP: rs755611610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980651 SCV001128607 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-02-01 criteria provided, single submitter clinical testing

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