ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr)

dbSNP: rs2148119358
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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 RCV002243573 SCV002512288 uncertain significance Congenital omphalocele; Orofacial cleft; Ambiguous genitalia; Hypotonia 2021-05-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP2 supporting, PP3 supporting

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