ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.186A>G (p.Ala62=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015835 SCV004839138 likely benign Hereditary pheochromocytoma-paraganglioma 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950782 SCV005500685 likely benign Hereditary cancer-predisposing syndrome 2024-10-24 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 RCV005220879 SCV005867698 likely benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2024-05-21 criteria provided, single submitter clinical testing

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