ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)

gnomAD frequency: 0.00003  dbSNP: rs779051357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688372 SCV000815980 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001662753 SCV001874420 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493162 SCV002796261 likely benign Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2022-01-11 criteria provided, single submitter clinical testing

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