ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.282T>C (p.Leu94=)

gnomAD frequency: 0.00001  dbSNP: rs1413313831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561377 SCV000673614 likely benign Hereditary cancer-predisposing syndrome 2016-10-14 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 RCV001440852 SCV001643767 likely benign Hereditary pheochromocytoma-paraganglioma 2021-09-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478290 SCV004220008 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing

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