ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.539T>C (p.Leu180Pro)

dbSNP: rs2153357304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797212 SCV002038615 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001797212 SCV002075179 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-21-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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