ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1307+19T>A

gnomAD frequency: 0.21660  dbSNP: rs2291772
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000610638 SCV000744816 benign Posterior column ataxia-retinitis pigmentosa syndrome 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001522442 SCV001731988 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522442 SCV001834577 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610638 SCV000733983 benign Posterior column ataxia-retinitis pigmentosa syndrome no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700173 SCV001918910 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700173 SCV001953832 benign not specified no assertion criteria provided clinical testing

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