ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg)

dbSNP: rs1955656296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330170 SCV001521782 uncertain significance Myopathy, lactic acidosis, and sideroblastic anemia 2 2019-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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