ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.3854C>T (p.Ala1285Val)

gnomAD frequency: 0.00047  dbSNP: rs201382029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998990 SCV001155367 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000998990 SCV001920810 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000998990 SCV001966027 likely benign not provided no assertion criteria provided clinical testing

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