ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn)

gnomAD frequency: 0.00001  dbSNP: rs1010416849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768811 SCV001993551 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503203 SCV002804092 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2021-12-28 criteria provided, single submitter clinical testing

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