ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.642C>A (p.Val214=)

gnomAD frequency: 0.00001  dbSNP: rs1343770559
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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 RCV002161296 SCV002480844 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-10-27 criteria provided, single submitter clinical testing

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