ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.125G>T (p.Gly42Val)

gnomAD frequency: 0.00098  dbSNP: rs121909354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001486135 SCV001690585 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2024-01-18 criteria provided, single submitter clinical testing
OMIM RCV000008880 SCV000029090 pathogenic Klippel-Feil syndrome 1, autosomal dominant 2009-03-15 no assertion criteria provided literature only

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