ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)

gnomAD frequency: 0.00001  dbSNP: rs145580873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819171 SCV002070575 uncertain significance not specified 2018-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482358 SCV002804038 uncertain significance Child syndrome; CK syndrome 2022-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574889 SCV004353110 likely benign not provided 2023-06-04 criteria provided, single submitter clinical testing

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