ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1702G>C (p.Ala568Pro)

gnomAD frequency: 0.00001  dbSNP: rs868806061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699661 SCV001925521 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726633 SCV001963837 likely benign not provided no assertion criteria provided clinical testing

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