ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.632-10dup

dbSNP: rs775642346
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480216 SCV000572566 likely benign not specified 2016-12-28 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.
CeGaT Center for Human Genetics Tuebingen RCV000474109 SCV001153951 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001475436 SCV001679626 likely benign Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2020-08-31 criteria provided, single submitter clinical testing

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