ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.534G>T (p.Gly178=)

gnomAD frequency: 0.00001  dbSNP: rs756016892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207476 SCV002363944 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-07-12 criteria provided, single submitter clinical testing

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