ClinVar Miner

Submissions for variant NM_138393.4(REEP6):c.349-21A>G

gnomAD frequency: 0.39828  dbSNP: rs2244686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544363 SCV001763389 benign Retinitis pigmentosa 77 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717829 SCV005307072 benign not provided criteria provided, single submitter not provided

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