ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.190del (p.Arg64fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142494 SCV003806984 uncertain significance Branchiootic syndrome 3 2022-08-26 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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