ClinVar Miner

Submissions for variant NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)

gnomAD frequency: 0.00165  dbSNP: rs112895783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945861 SCV001091924 benign Klippel-Feil syndrome 3, autosomal dominant 2022-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505405 SCV002811804 likely benign Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6 2021-07-28 criteria provided, single submitter clinical testing

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