ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.612G>T (p.Pro204=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003435563 SCV004158233 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing GDF6: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778444 SCV004583388 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-11-24 criteria provided, single submitter clinical testing

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