ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1970+20A>C

gnomAD frequency: 0.20535  dbSNP: rs11620036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673981 SCV001884301 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776273 SCV002014210 benign Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001673981 SCV002423696 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673981 SCV005230855 benign not provided criteria provided, single submitter not provided

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