ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3375+3G>A (rs397516299)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036107 SCV000059759 uncertain significance not specified 2012-04-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 3375+3G>A varia nt in MYO7A has not been reported in the literature nor previously identified by our laboratory. This variant is located in the 5' splice region; however, compu tational tools do not predict divergence from the splice consensus sequence. In summary, the clinical significance of this variant cannot be determined with cer tainty; however, we would lean towards a more likely benign role based on a lack of predicted splicing impact.
Illumina Clinical Services Laboratory,Illumina RCV000299071 SCV000374338 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360825 SCV000374339 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268456 SCV000374340 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668917 SCV000793593 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-08-25 criteria provided, single submitter clinical testing

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