ClinVar Miner

Submissions for variant NM_001330691.3(CEP78):c.893-1G>A (rs1057517694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000412597 SCV000490344 pathogenic Cone-rod dystrophy and hearing loss 1 2021-06-14 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002940 SCV001160975 pathogenic Sensorineural hearing loss; Cone-rod degeneration 2019-06-23 no assertion criteria provided research

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