ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.456-83C>T

gnomAD frequency: 0.14880  dbSNP: rs72766615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835525 SCV000977318 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001544255 SCV001763255 benign Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835525 SCV005297688 benign not provided criteria provided, single submitter not provided

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