ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)

gnomAD frequency: 0.00001  dbSNP: rs553194272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000865891 SCV000715692 benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000865891 SCV001714096 uncertain significance not provided 2019-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510749 SCV001717859 benign Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2024-11-10 criteria provided, single submitter clinical testing

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