ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.63+19C>A

dbSNP: rs1553996384
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601436 SCV000717534 likely benign not specified 2017-04-11 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 RCV002063079 SCV002491010 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-05-31 criteria provided, single submitter clinical testing

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