ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.459G>C (p.Leu153=)

dbSNP: rs757151603
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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 RCV001022763 SCV001184534 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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 RCV001432444 SCV001635215 likely benign Hereditary pheochromocytoma-paraganglioma 2024-11-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394642 SCV006058746 likely benign Paragangliomas 2 2022-04-26 criteria provided, single submitter clinical testing

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