ClinVar Miner

Submissions for variant NM_002887.4(RARS1):c.823-16AT[7]

dbSNP: rs745773302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704600 SCV000567873 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001704600 SCV002508093 likely benign not provided 2024-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962334 SCV004786273 benign RARS1-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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