ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.1022G>A (p.Arg341His)

dbSNP: rs764936321
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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 RCV001926365 SCV002207321 benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2025-01-06 criteria provided, single submitter clinical testing

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