ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met)

gnomAD frequency: 0.77391  dbSNP: rs715747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609614 SCV000716934 benign not specified 2017-05-09 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 RCV001554058 SCV001775213 benign Hearing loss, autosomal recessive 112 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717684 SCV005299371 benign not provided criteria provided, single submitter not provided

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