ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.393A>G (p.Val131=)

dbSNP: rs2130237356
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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 RCV002166896 SCV002332112 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2021-08-17 criteria provided, single submitter clinical testing

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