ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329891 SCV001521447 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-09-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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