ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.730A>G (p.Met244Val)

gnomAD frequency: 0.00002  dbSNP: rs770614769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727997 SCV000855514 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507280 SCV002815123 uncertain significance Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2022-05-24 criteria provided, single submitter clinical testing

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