ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.172-6230G>A

gnomAD frequency: 0.00097  dbSNP: rs148339628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989236 SCV001139473 likely benign Pheochromocytoma 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221427 SCV001149236 benign not provided 2023-08-01 criteria provided, single submitter clinical testing MAX: PP3, BS1, BS2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003221427 SCV002010474 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936245 SCV004754723 likely benign MAX-related condition 2020-09-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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