ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)

gnomAD frequency: 0.00011  dbSNP: rs376045225
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676952 SCV000533835 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676952 SCV000883851 likely benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676952 SCV002431338 likely benign not provided 2022-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506075 SCV002806027 likely benign Combined oxidative phosphorylation deficiency 44 2021-09-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676952 SCV000802778 likely benign not provided 2016-03-08 no assertion criteria provided clinical testing

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