ClinVar Miner

Submissions for variant NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)

gnomAD frequency: 0.00017  dbSNP: rs548137246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238202 SCV002010577 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
OMIM RCV000770902 SCV000902406 pathogenic Hearing loss, autosomal recessive 100 2019-05-08 no assertion criteria provided literature only

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