ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.432T>C (p.Ser144=)

dbSNP: rs1485899939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002101269 SCV002394355 likely benign Hereditary pheochromocytoma-paraganglioma 2023-05-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258380 SCV002535915 likely benign Hereditary cancer-predisposing syndrome 2020-07-21 criteria provided, single submitter curation
Ambry Genetics RCV002258380 SCV002632141 likely benign Hereditary cancer-predisposing syndrome 2019-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV005242171 SCV005893868 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing MAX: BP4, BP7

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