ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7059del (p.Phe2353fs)

dbSNP: rs2148102202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375993 SCV001572995 likely pathogenic Oto-palato-digital syndrome, type II 2020-10-01 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001375993 SCV002576371 likely pathogenic Oto-palato-digital syndrome, type II criteria provided, single submitter clinical testing

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