ClinVar Miner

Submissions for variant NM_020191.4(MRPS22):c.173-15_173-14dup

gnomAD frequency: 0.00009  dbSNP: rs863224076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197881 SCV000251758 benign not specified 2014-04-01 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002054329 SCV002442790 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing

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