ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.986_1005del (p.Pro329fs)

dbSNP: rs2130205786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226947 SCV002505858 likely pathogenic Klippel-Feil syndrome 1, autosomal dominant 2021-08-01 criteria provided, single submitter clinical testing

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