ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)

gnomAD frequency: 0.00031  dbSNP: rs139684349
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784974 SCV000923519 uncertain significance Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000896974 SCV001041089 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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