ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.147G>C (p.Gln49His)

dbSNP: rs867606904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329822 SCV001521362 uncertain significance Severe X-linked mitochondrial encephalomyopathy 2019-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV003135985 SCV003823074 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing

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