ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)

gnomAD frequency: 0.00003  dbSNP: rs121909353
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287766 SCV000475535 likely benign Klippel-Feil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001429590 SCV001632307 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-09-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003152588 SCV003841221 uncertain significance Leber congenital amaurosis 17 criteria provided, single submitter clinical testing
OMIM RCV000008879 SCV000029089 pathogenic Klippel-Feil syndrome 1, autosomal dominant 2009-03-15 no assertion criteria provided literature only
Baylor Genetics RCV000008879 SCV000328724 pathogenic Klippel-Feil syndrome 1, autosomal dominant 2014-12-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GDF6 (NM_001001557.2, c.1271A>G) and SOX10 (NM_006941.3, c.316C>G) in one individual with reported features of developmental delay and unilateral hearing loss. The GDF6 variant has been previously reported as disease-causing (PMID 19129173). Additionally, this same variant was also seen in a 48-year-old male with migraines, white matter changes, intracerebral hemorrhages, episodes of hemiparesis and dysarthria, renal cysts, hematuria.
Codex Genetics Limited RCV000984889 SCV000995999 pathogenic Klippel-Feil syndrome 1, autosomal dominant; Autosomal dominant Parkinson disease 8 2019-02-28 no assertion criteria provided provider interpretation

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