ClinVar Miner

Submissions for variant NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)

dbSNP: rs1577888985
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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, IRCCS Burlo Garofolo RCV000790524 SCV000916306 uncertain significance Hereditary hearing loss and deafness 2019-05-29 no assertion criteria provided clinical testing
OMIM RCV001003505 SCV001162358 pathogenic Hearing loss, autosomal dominant 76 2020-02-26 no assertion criteria provided literature only

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