ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.1059G>A (p.Met353Ile)

gnomAD frequency: 0.00092  dbSNP: rs149262326
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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 RCV001335891 SCV001529147 uncertain significance Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2018-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV003481077 SCV004224654 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing BP4

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