ClinVar Miner

Submissions for variant NM_001080476.3(GRXCR1):c.627+19A>T

gnomAD frequency: 0.00021  dbSNP: rs201824235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001775538 SCV002013290 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30665703, 20137778)
OMIM RCV000000217 SCV000020360 pathogenic Autosomal recessive nonsyndromic hearing loss 25 2010-02-12 no assertion criteria provided literature only

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