ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.231G>C (p.Leu77=)

gnomAD frequency: 0.00001  dbSNP: rs1187106228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240695 SCV001689380 likely benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2023-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456854 SCV002736416 likely benign Hereditary cancer-predisposing syndrome 2020-07-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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