ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.720C>T (p.His240=)

gnomAD frequency: 0.00004  dbSNP: rs759290962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436878 SCV001639723 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2020-08-19 criteria provided, single submitter clinical testing

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