ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.207G>A (p.Glu69=)

dbSNP: rs1592780392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235869 SCV001617555 likely benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2021-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030013 SCV005019751 likely benign Hereditary cancer-predisposing syndrome 2023-10-22 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.

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