ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.1728+7A>G

gnomAD frequency: 0.00064  dbSNP: rs186873433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963120 SCV001110254 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731995 SCV001984351 likely benign Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2020-01-06 criteria provided, single submitter clinical testing

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