ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.2014-12_2014-11del

dbSNP: rs770341016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002526520 SCV000565734 likely benign not provided 2023-06-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002506158 SCV002799338 likely benign Combined oxidative phosphorylation deficiency 44 2022-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002526520 SCV003031445 likely benign not provided 2023-03-13 criteria provided, single submitter clinical testing

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