ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) (rs397507497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033365 SCV000057270 likely benign not specified 2012-01-24 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000033365 SCV000709711 uncertain significance not specified 2018-02-28 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2/246114 total chr in GnomAd; LB by geneDx in ClinVar - no data; not in HGMD or google search; predicted benign. Identified in 1 individual with HCM.

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