ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.767G>A (p.Arg256Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143399 SCV003828343 likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2023-08-09 criteria provided, single submitter clinical testing

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