ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.57A>G (p.Gln19=) (rs1395966308)

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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 RCV000568768 SCV000673607 likely benign Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000545746 SCV000637880 likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-03-21 criteria provided, single submitter clinical testing

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