ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.225A>C (p.Arg75=)

dbSNP: rs2063104742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257296 SCV002535908 likely benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation
Ambry Genetics RCV002257296 SCV002733822 likely benign Hereditary cancer-predisposing syndrome 2019-11-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094241 SCV003472286 likely benign Hereditary pheochromocytoma-paraganglioma 2022-04-01 criteria provided, single submitter clinical testing

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