ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1708-1G>A

gnomAD frequency: 0.00001  dbSNP: rs759414956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722237 SCV001577812 likely pathogenic not provided 2021-08-12 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000722237 SCV000853368 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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