ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.240+9C>T

gnomAD frequency: 0.00009  dbSNP: rs376459836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444395 SCV000514824 benign not specified 2015-09-18 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 RCV002061535 SCV002457150 likely benign Leigh syndrome 2024-02-01 criteria provided, single submitter clinical testing

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