ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.3951G>T (p.Arg1317=)

gnomAD frequency: 0.73237  dbSNP: rs11121172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794891 SCV002033554 benign Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077223 SCV002408769 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002077223 SCV005284699 benign not provided criteria provided, single submitter not provided

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