ClinVar Miner

Submissions for variant NC_000007.14:g.107660799A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825451 SCV000966752 uncertain significance not specified 2018-12-19 criteria provided, single submitter clinical testing The c.-60A>G variant in SLC26A4 has been previously reported in 1 individual wit h unilateral enlarged vestibular aqueduct (Choi 2009), but has also been identif ied in 0.15% (13/8710) of African chromosomes by gnomAD (http://gnomad.broadinst itute.org). This variant is in the 5' untranslated region and the impact, if any , on the protein is unknown. In summary, the clinical significance of this varia nt is uncertain. ACMG/AMP criteria: BS1_Supporting.

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