ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.399G>A (p.Arg133=)

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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 RCV003040029 SCV003343123 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-04-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988044 SCV004804519 likely benign not specified 2024-01-02 criteria provided, single submitter clinical testing

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