ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.1426C>T (p.Pro476Ser)

gnomAD frequency: 0.02062  dbSNP: rs144717081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710232 SCV001938157 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477897 SCV002797387 likely benign Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2021-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001710232 SCV005282230 benign not provided criteria provided, single submitter not provided

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