ClinVar Miner

Submissions for variant NM_003924.3(PHOX2B):c.591C>G (p.Gly197=) (rs144414806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241765 SCV000309887 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000475840 SCV000557100 likely benign Congenital central hypoventilation 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576019 SCV000674216 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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