ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.777+18T>C

gnomAD frequency: 0.00155  dbSNP: rs200187845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424966 SCV000512982 benign not specified 2015-04-09 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 RCV002058897 SCV002401692 benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481297 SCV002795373 likely benign Combined oxidative phosphorylation deficiency 44 2021-07-21 criteria provided, single submitter clinical testing

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