ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)

gnomAD frequency: 0.00002  dbSNP: rs781879080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752652 SCV001997565 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489786 SCV002793201 uncertain significance Child syndrome; CK syndrome 2021-12-10 criteria provided, single submitter clinical testing

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