ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1509C>T (p.Pro503=)

gnomAD frequency: 0.00009  dbSNP: rs371771522
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699680 SCV001918891 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727942 SCV001972783 likely benign not provided no assertion criteria provided clinical testing

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