ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.456+9C>T

gnomAD frequency: 0.00004  dbSNP: rs200565489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436401 SCV000526993 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458063 SCV000553904 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000662487 SCV000784991 likely benign Paragangliomas 5 2017-03-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662487 SCV004018604 likely benign Paragangliomas 5 2023-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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