ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.-29_-9delinsT

dbSNP: rs1577732214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341139 SCV000441470 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000607417 SCV000716284 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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