ClinVar Miner

Submissions for variant NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=)

gnomAD frequency: 0.49096  dbSNP: rs4244947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554872 SCV001776194 benign Cone-rod dystrophy 15 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718933 SCV005317573 benign not provided criteria provided, single submitter not provided

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