ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6793G>A (p.Glu2265Lys)

dbSNP: rs2148103563
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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 RCV002243574 SCV002512289 uncertain significance Heart, malformation of; Hearing impairment; Flexion contracture; Thrombocytopenia 2021-05-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3

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