ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1412-11del

dbSNP: rs36052228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616014 SCV001837105 benign not provided 2020-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788612 SCV002029284 benign Retinitis pigmentosa 23 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788611 SCV002029285 benign Joubert syndrome 10 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788609 SCV002029286 benign Orofaciodigital syndrome I 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788610 SCV002029287 benign Simpson-Golabi-Behmel syndrome type 2 2021-09-05 criteria provided, single submitter clinical testing

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