ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) (rs2061464108)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV001250408 SCV001337668 pathogenic Autosomal dominant non-syndromic sensorineural deafness type DFNA 2019-07-06 no assertion criteria provided research Dominant, congenital, mild-profound high tone SNHL

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