ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.1A>G (p.Met1Val)

dbSNP: rs387906649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Department of Medical Genetics, University of Cambridge RCV000850061 SCV000992217 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
OMIM RCV000022652 SCV000043941 risk factor Pheochromocytoma, susceptibility to 2011-06-19 no assertion criteria provided literature only

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