ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1317+1G>T

gnomAD frequency: 0.00001  dbSNP: rs886037773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000240834 SCV000258937 pathogenic Mitochondrial disease 2015-12-22 no assertion criteria provided clinical testing

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