ClinVar Miner

Submissions for variant NM_001349.4(DARS1):c.1150-5T>G

gnomAD frequency: 0.00075  dbSNP: rs199776135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886560 SCV001030074 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886560 SCV001152408 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975582 SCV004787497 likely benign DARS1-related disorder 2020-06-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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