ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)

gnomAD frequency: 0.00003  dbSNP: rs751150787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986983 SCV001136147 uncertain significance Leigh syndrome 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480894 SCV004225975 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing PP3, PM2

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