ClinVar Miner

Submissions for variant NM_002804.5(PSMC3):c.1127+337A>G

dbSNP: rs1177898071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000768461 SCV000864220 pathogenic Developmental cataract; Severe sensorineural hearing impairment; Neurodevelopmental delay 2018-10-01 no assertion criteria provided research c.[2577+25G>A];[3454-488_4182+2588dup]
OMIM RCV001450093 SCV001653682 pathogenic Deafness, cataract, impaired intellectual development, and polyneuropathy 2021-06-01 no assertion criteria provided literature only

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