ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1662G>A (p.Glu554=)

dbSNP: rs1238971253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316167 SCV000847794 likely benign Primary ciliary dyskinesia; Inborn genetic diseases 2016-09-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002060909 SCV002462924 likely benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-11-17 criteria provided, single submitter clinical testing

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