ClinVar Miner

Submissions for variant NC_000001.10:g.(155160963_155162030)delinsAT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV001733868 SCV001985034 not provided Tubulointerstitial kidney disease, autosomal dominant, 2 no assertion provided literature only Variant encodes the MUC1fs protein [Zivna et al 2018]. This variant not detected by most available clinically MUC1 genetic testing.

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