ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.672+38G>A

gnomAD frequency: 0.14429  dbSNP: rs9543124
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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 RCV001788891 SCV002029662 benign Joubert syndrome 33 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709163 SCV005232615 benign not provided criteria provided, single submitter not provided

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